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Protein Characteristics Location Function Mutations/Disorders
Protein Characteristics Location Function Mutations/Disorders
CFTR (and Two transmembrane Apical surface of Allows for passage of Cl- across Cystic Fibrosis:
ENaC) domains, two ATP- epithelial cells. cell membranes. Regulated by Decreased activity of
binding domains, a cAMP levels and phosphorylation CFTR results in a high
regulatory R domain. by protein kinase A. Related to cytoplasmic
ENaC, in that the level of Cl- in concentration of Cl-
the cell affects how much sodium and Na+ for epithelial
travels through ENaC. cells lining the airway.
Water then flows into
the cell, leaving a
thick, dehydrated
mucus.
Elastic fibers Straight fibers composed Larynx, skin, trachea, Marfan syndrome
of randomly coiled bronchi, arteries, CT
molecules. of eyes
Fibers
Collagen Most abundant protein in Both types Type I: Resist stretch, provide Defects in collagen
body, 30% of dry weight. synthesized in RER tensile strength. synthesis can affect
More than 20 types Type I: Dermis, organ Type III: Provide structural stretch of fibers,
produced, most capsules, bone, framework and stability. strength of fibers.
commonly by fibroblasts. tendons, Excess deposition of
4 categories: fibril fibrocartilage, scar collagen in wound
forming (I (most tissue healing forms keloids.
abundant), II, III), fibril Type III (Reticular
associated, and two fibers): “extensible Triple helical structure
found in basal lamina: organs,” stroma of requires vitamin C
network forming (IV) and smooth muscle and (necessary for
anchoring fibrils (VII) hematopoietic organs, hydroxylation of
artery walls, proline residues).
intestines, uterus, Lack of vitamin C
loose connective leads to scurvy.
tissue in endocrine
glands & liver,
endoneurium
Adherin
Cadherin
Integrin