CHROMOSOME 1

A.
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of
chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes.
Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of
information for DNA. It has a genetic length of 246 Mb and have 1961 accumulated number of
genes.
B.
Chromosome number: 1
Gene: GJB3 gap junction protein beta 3
Location on the chromosome: 1p34.3
Normal function of the gene: provides instructions for making a protein called gap junction beta 3,
more commonly known as connexin 31. This protein is part of the connexin family, a group of
proteins that form channels called gap junctions on the surface of cells
Disorder/condition if the gene undergoes mutation: At least 15 GJB3 gene mutations have been
identified in people with erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder
characterized by areas of hyperkeratosis, which is abnormally thickened skin, and temporarily
reddened patches called erythematous areas.
https://medlineplus.gov/genetics/gene/gjb3/

CHROMOSOME 2
A.
Chromosome  2 is one of the twenty-three pairs of chromosomes in humans. People normally have
two copies of this chromosome. Chromosome 2 is the second-largest human chromosome,
spanning more than 242 million base pairs and representing almost eight percent of the total DNA in
human cells. It has accumulated 1,194 number of genes and has a genetic length of 237 Mb.
B.
Chromosome number: 2
Gene: TPO thyroid peroxidase
Location on the chromosome: 2p25.3
Normal function of the gene: provides instructions for making an enzyme called thyroid peroxidase.
This enzyme plays a central role in the function of the thyroid gland, a butterfly-shaped tissue in the
lower neck.
Disorder/condition if the gene undergoes mutation: TPO gene mutations can cause congenital
hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from
birth.
https://medlineplus.gov/genetics/gene/tpo/

CHROMOSOME 3
A.
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies
of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material
of DNA) and represents about 6.5 percent of the total DNA in cells. It has a genetic length of 200 Mb
and have 1,024 number of genes
B.
Chromosome number: 3
Gene: VHL von Hippel-Lindau tumor suppressor
Location on the chromosome: 3p25.3
Normal function of the gene: provides instructions for making a protein that functions as part of a
complex (a group of proteins that work together) called the VCB-CUL2 complex.
Disorder/condition if the gene undergoes mutation: Mutations in the VHL gene increase the risk of
developing tumors of the nervous system called paragangliomas or pheochromocytomas (a type of
paraganglioma).
https://medlineplus.gov/genetics/gene/vhl/

CHROMOSOME 4
A.
Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies
of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material
of DNA) and represents between 6 and 6.5 percent of the total DNA in cells. It has accumulated 727
number of genes and have a size of 190 Mb
B.
Chromosome number: 4
Gene: AGA aspartylglucosaminidase
Location on the chromosome: 4q34.3
Normal function of the gene: provides instructions for producing an enzyme called
aspartylglucosaminidase.
Disorder/condition if the gene undergoes mutation: Mutations in the AGA gene have been found
to cause aspartylglucosaminuria. This condition primarily affects mental functioning and movement.
Aspartylglucosaminuria worsens over time.
https://medlineplus.gov/genetics/gene/aga/

CHROMOSOME 5
A.
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies
of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA)
and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human
chromosome. It has size of 180 Mb and have 839 number of genes.
B.
Chromosome number: 5
Gene: ERAP1 endoplasmic reticulum aminopeptidase 1
Location on the chromosome: 5q15
Normal function of the gene: provides instructions for making a protein called endoplasmic
reticulum aminopeptidase 1.
Disorder/condition if the gene undergoes mutation: Mutation in the ERAP1 gene have been found
to influence the risk of ankylosing spondylitis. This condition is a form of painful, ongoing joint
inflammation (chronic inflammatory arthritis) that primarily affects the spine
https://medlineplus.gov/genetics/gene/erap1/

CHROMOSOME 6
A.
Chromosome  6 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building
material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It has a size of
171.11 Mb and have 996 number of genes
B.
Chromosome number: 6
Gene: COL11A2 collagen type XI alpha 2 chain
Location on the chromosome: 6p21.32
Normal function of the gene: provides instructions for making a component of type XI collagen
called the pro-alpha2(XI) chain.
Disorder/condition if the gene undergoes mutation: Mutation in the COL11A2 gene have been
identified in people with fibrochondrogenesis type 2, a disorder of bone growth characterized by
severe skeletal abnormalities and hearing loss.
https://medlineplus.gov/genetics/gene/col11a2/

CHROMOSOME 7
A.
Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of
this chromosome. Chromosome 7 spans about 159 million [5] base pairs (the building material
of DNA) and represents between 5 and 5.5 percent of the total DNA in cells. It has 862 number of
genes and have a size of 159 Mb
B.
Chromosome number: 7
Gene: AASS aminoadipate-semialdehyde synthase
Location on the chromosome: 7q31.32
Normal function of the gene: provides instructions for making an enzyme called aminoadipic
semialdehyde synthase.
Disorder/condition if the gene undergoes mutation: Mutations in the AASS gene have been found
to cause hyperlysinemia. Most of these mutations change single amino acids in aminoadipic
semialdehyde synthase.
https://medlineplus.gov/genetics/gene/aass/

CHROMOSOME 8
A.
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies
of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material
of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. Have a size of 146 Mb and
646 number of genes
B.
Chromosome number: 8
Gene: ANK1 ankyrin 1
Location on the chromosome: 8p11.21
Normal function of the gene: provides instruction for making a protein called ankyrin-1. This protein
is primarily active (expressed) in red blood cells, but it is also found in muscle and brain cells.
Disorder/condition if the gene undergoes mutation: Mutation in the ANK1 gene have been found
to cause hereditary spherocytosis. Some of these mutations delete small pieces of genetic material,
and others change single DNA building blocks (nucleotides) in the ANK1 gene
https://medlineplus.gov/genetics/gene/ank1/

CHROMOSOME 9
A.
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two
copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about
138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and
4.5% of the total DNA in cells. Contains 739 number of genes and sizing 140 Mb
B.
Chromosome number: 9
Gene: TSC1 TSC complex subunit 1
Location on the chromosome: 9q34.13
Normal function of the gene: provides instructions for producing a protein called hamartin. Within
cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. 
Disorder/condition if the gene undergoes mutation: Mutations can cause a disorder called
lymphangioleiomyomatosis (LAM), although variants in the TSC2 gene appear to be responsible for
most cases of this disorder. 
https://medlineplus.gov/genetics/gene/tsc1/

CHROMOSOME 10
A.
Chromosome 10 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 10 spans about 133 million base pairs (the building
material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. It is known of
have 706 number of genes and 135Mb in size.
B.
Chromosome number: 10
Gene: CDH23 cadherin related 23
Location on the chromosome: 10q22.1
Normal function of the gene: provides instructions for making cadherin 23, a type of protein that
helps cells stick together. 
Disorder/condition if the gene undergoes mutation: Mutations in the CDH23 gene can cause
Usher syndrome type I, which is characterized by a combination of hearing loss, vision loss, and
problems with balance and coordination
https://medlineplus.gov/genetics/gene/cdh23/

CHROMOSOME 11
A.
Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two
copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building
material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. Contains 1,224
number of genes and is 134 Mb in size.
B.
Chromosome number: 11
Gene: TECTA tectorin alpha
Location on the chromosome: 11q23.3
Normal function of the gene: provides instructions for making a protein called alpha-tectorin. This
protein is found in the tectorial membrane
Disorder/condition if the gene undergoes mutation: Mutations that can cause nonsyndromic
hearing loss, which is loss of hearing that is not associated with other signs and symptoms.
https://medlineplus.gov/genetics/gene/tecta/

CHROMOSOME 12
A.
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building
material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. This gene have
a size of 132 Mb and contains 988 number of genes
B.
Chromosome number: 12
Gene: COL2A1 collagen type II alpha 1 chain
Location on the chromosome: 12q13.11
Normal function of the gene: provides instructions for making one component of type II collagen,
called the pro-alpha1(II) chain. Type II collagen adds structure and strength to the connective tissues
that support the body's muscles, joints, organs, and skin.
Disorder/condition if the gene undergoes mutation: Mutations in this gene are associated with
achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-
Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and
spondyloepimetaphyseal dysplasia Strudwick type.
https://medlineplus.gov/genetics/gene/col2a1/

CHROMOSOME 13
A.
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building
material of DNA) and represents between 3.5 and 4% of the total DNA in cells. Have 308 number of
genes and with a size about 93 Mb.
B.
Chromosome number: 13
Gene: ARGLU1 arginine and glutamate-rich protein 1
Location on the chromosome: 13q33.3
Normal function of the gene: provides instructions for making a protein called arginine and
glutamate-rich protein 1
Disorder/condition if the gene undergoes mutation: Mutation in the ARGLU1causes the 8p11
myeloproliferative syndrome which is a blood cancer that involves different types of blood
cell.

CHROMOSOME 14
A.
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building
material of DNA) and represents between 3 and 3.5% of the total DNA in cells. It is also known to
have 93 Mb in size and 583 number of genes.
B.
Chromosome number: 14
Gene: ACIN1 apoptotic chromatin condensation inducer 1
Location on the chromosome: 14q11.2
Normal function of the gene: provides instructions for making a protein called apoptotic chromatin
Disorder/condition if the gene undergoes mutation: Mutation in the ACIN1 causes the Pilar
sheath acanthoma which is an uncommon small benign tumour originating from the hair follicle.
CHROMOSOME 15
A.
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 15 spans about 102 million base pairs (the building
material of DNA) and represents between 3% and 3.5% of the total DNA in cells. Chromosome 15 is
an acrocentric chromosome. The long arm has a size of 81 Mb and the short arm is 20 Mb. This
chromosome also contains 561 number of genes
B.
Chromosome number: 15
Gene: FBN1 fibrillin 1
Location on the chromosome: 15q21.1
Normal function of the gene: provides instructions for making a large protein called fibrillin-1. This
protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins
and other molecules that forms in the spaces between cells
Disorder/condition if the gene undergoes mutation: Mutations that cause Marfan syndrome, a
disorder that affects the connective tissue supporting the body's joints and organs.
https://medlineplus.gov/genetics/gene/fbn1/

CHROMOSOME 16
A.
Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building material
of DNA) and represents just under 3% of the total DNA in cells. It has 795 genes and is 90 Mb in
size
B.
Chromosome number: 16
Gene: MC1R melanocortin 1 receptor
Location on the chromosome: 16q24.3
Normal function of the gene: provides instructions for making a protein called the melanocortin 1
receptor. This receptor plays an important role in normal pigmentation
Disorder/condition if the gene undergoes mutation: Mutation in the MC1R gene increase the risk
of developing melanoma, a type of skin cancer that begins in melanocytes.
https://medlineplus.gov/genetics/gene/mc1r/

CHROMOSOME 17
A.
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building
material of DNA) and represents between 2.5 and 3% of the total DNA in cells. The size of this
chromosome is 81 Mb and have 1,124 genes
B.
Chromosome number: 17
Gene: PNPO pyridoxamine 5'-phosphate oxidase
Location on the chromosome: 17q21.32
Normal function of the gene: provides instructions for producing an enzyme called pyridoxine 5'-
phosphate oxidase. This enzyme is involved in the breakdown (metabolism) of vitamin B6. 
Disorder/condition if the gene undergoes mutation: mutations in the PNPO gene have been found
to cause pyridoxal 5'-phosphate-dependent epilepsy. Most of these mutations change one protein
building block (amino acid) in the pyridoxine 5'-phosphate oxidase enzyme, impairing its normal
function.
https://medlineplus.gov/genetics/gene/pnpo/

CHROMOSOME 18
A.
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material
of DNA) and represents about 2.5 percent of the total DNA in cells. The size of this chromosome is
78 Mb and have 261 number of genes
B.
Chromosome number: 18
Gene: NPC1 NPC intracellular cholesterol transporter 1
Location on the chromosome: 18q11.2
Normal function of the gene: provides instructions for making a protein that is located within the
membrane of compartments in the cell called lysosomes and endosomes, which digest and recycle
materials.
Disorder/condition if the gene undergoes mutation: Mutations in the NPC1 gene have been found
to cause Niemann-Pick disease type C1. This type of Niemann-Pick disease is characterized by a
buildup of fat within cells that leads to movement problems, neurological impairment, lung and liver
disease, and speech and feeding problems.
https://medlineplus.gov/genetics/gene/npc1/

CHROMOSOME 19
A.
Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two
copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the
building material of DNA. It has accumulated 1,357 number of genes and has a size of 59 Mb
B.
Chromosome number: 19
Gene: STK11 serine/threonine kinase 11
Location on the chromosome: 19p13.3
Normal function of the gene: provides instructions for making an enzyme called serine/threonine
kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from
growing and dividing too fast or in an uncontrolled way.
Disorder/condition if the gene undergoes mutation: Inherited mutations in the STK11 gene
cause Peutz-Jeghers syndrome, a condition characterized by the development of noncancerous
growths called hamartomatous polyps in the gastrointestinal tract and a greatly increased risk of
developing several types of cancer.
REFERENCES:
Chromosome 19 (n.d.) Wikipedia. Retrieved from https://en.wikipedia.org/wiki/Chromosome_19
STK11 gene (n.d.) MedlinePlus. Retrieved from https://medlineplus.gov/genetics/gene/stk11/
STK11IP Gene Serine/Threonine Kinase 11 Interacting Protein (2022). GeneCards. Retrieved
from https://www.genecards.org/cgi-bin/carddisp.pl?gene=STK11
Peutz Jeghers syndrome (n.d.) Health Jade. Retrieved from https://healthjade.net/peutz-
jeghers-syndrome/

CHROMOSOME 20
A.
Description: Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome
20 spans around 63 million base pairs (the building material of DNA) and represents between 2
and 2.5 percent of the total DNA in cells. It has a genetic length of 63 Mb and have 516
estimated number of genes
B.
Chromosome number: 20
Gene: EDN3 endothelin 3
Location on the chromosome: 20q13.32
Normal function of the gene: provides instructions for making a protein called endothelin 3
Disorder/condition if the gene undergoes mutation: Mutations in the EDN3 have been found to
cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the
intestine.
REFERENCES
Chromosome 20. (n.d.) Wikipedia. Retrieved from https://en.wikipedia.org/wiki/Chromosome_20
EDN3 gene. (n.d.) MedlinePlus. Retrieved from https://medlineplus.gov/genetics/gene/edn3/
EDN3 Gene - Endothelin 3. (n.d.) GeneCards. Retrieved from https://www.genecards.org/cgi-
bin/carddisp.pl?gene=EDN3
Hirschsprung’s disease. (n.d.) Boston Children’s Hospital. Retrieved from
https://www.childrenshospital.org/conditions/hirschsprungs-disease
CHROMOSOME 21
A.
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the
smallest human autosome and chromosome, with 48 million base pairs (the building material
of DNA) representing about 1.5 percent of the total DNA in cells. Most people have two copies of
chromosome 21, while those with three copies of chromosome 21 have Down syndrome, also called
"trisomy 21". It has accumulated size of 48 Mb and 215 number of gene. It is also the smallest
human autosome
B.
Chromosome number: 21
Gene: APP amyloid beta precursor protein
Location on the chromosome: 21q21.3
Normal function of the gene: provides instructions for making a protein called amyloid precursor
protein. This protein is found in many tissues and organs, including the brain and spinal cord
Disorder/condition if the gene undergoes mutation: Mutation in the APP gene can cause early-
onset Alzheimer disease, which begins before age 65. These variants are responsible for less than
10 percent of all early-onset cases of the disorder.
https://medlineplus.gov/genetics/gene/app/

CHROMOSOME 22
A.
Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two
copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome,
spanning about 49 million DNA base pairs and representing between 1.5 and 2% of the total DNA
in cells. The size of this chromosome is 51 Mb (total length) and have 417 number of genes
B.
Chromosome number: 22
Gene: MN1 MN1 proto-oncogene, transcriptional regulator
Location on the chromosome: 22q12.1
Normal function of the gene: provides instructions for making a protein whose function is unclear.
The MN1 protein interacts with other proteins known as transcription factors.
Disorder/condition if the gene undergoes mutation: Mutations in the MN1 gene have been found
to cause MN1 C-terminal truncation (MCTT) syndrome. This condition is characterized by intellectual
disability, developmental delay, distinctive facial features, and brain abnormalities. 
https://medlineplus.gov/genetics/gene/mn1/

CHROMOSOME X
A.
Description: X chromosome is one of the two sex-determining chromosomes (allosomes) in
many organisms, including mammals (the other is the Y chromosome), and is found in both
males and females. It has accumulated 804 numbers of genes and has a size of 155 Mb.
B.
Sex chromosome: X
Gene: SMS spermine synthase
Location on the chromosome: Xp22.11
Normal function of the gene: provides instructions for making an enzyme called spermine
synthase. This enzyme is involved in the production of spermine, which is a type of small
molecule called a polyamine
Disorder/condition if the gene undergoes mutation: Mutation in the SMS gene has been found to
cause Snyder-Robinson syndrome, a condition characterized by intellectual disability and bone
and muscle abnormalities.
REFERENCES
X chromosomes (n.d.) Wikipedia. Retrieved from https://en.wikipedia.org/wiki/X_chromosome
SMS gene. (n.d.) MedlinePlus. Retrieved from https://medlineplus.gov/genetics/gene/sms/
SMS Gene - Spermine Synthase. Retrieved from
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMS
Albert, J. S. et. al. (2015). Impaired osteoblast and osteoclast function characterize the
osteoporosis of Snyder - Robinson syndrome. Retrieved from
https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0235-8

CHROMOSOME Y
A.
Description: Y chromosome is one of two sex chromosomes (allosomes) in therian mammals,
including humans, and many other animals. The other is the X chromosome. Y is normally the
sex-determining chromosome in many species, since it is the presence or absence of Y that
determines the male or female sex of offspring produced in sexual reproduction.
B.
Sex Chromosome: Y:
Gene: SRY sex determining region Y
Location on the chromosome: Yp11.2
Normal function of the gene: provides instructions for making a protein called the sex-determining
region Y protein. This protein is involved in male-typical sex development, which usually follows a
certain pattern based on an individual's chromosomes
Disorder/condition if the gene undergoes mutation: Mutations in the SRY gene have been
identified in approximately 15 percent of individuals with Swyer syndrome, also known as 46,XY
complete gonadal dysgenesis or 46,XY pure gonadal dysgenesis.
REFERENCES
Y chromosomes. (n.d.) Wikipedia. Retrieved from https://en.wikipedia.org/wiki/Y_chromosome
SRY gene. (n.d.) MedlinePlus. Retrieved from https://medlineplus.gov/genetics/gene/sry/
SRY Gene - Sex Determining Region Y. (n.d.) GeneCards. Retrieved from
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SRY
Gomez, M. B., Packman, R. & Zermiani, M. (2020). Swyer Syndrome: Causes, Clinical
Manifestations and Pregnancy. Retrieved from https://www.invitra.com/en/swyer-syndrome/