TMEM63C protein

No one knew what the TMEM63C protein was doing inside the cell, but the researchers had an
idea. Their previous work suggested that cellular pathways involved in the processing of fat
molecules may be a common factor underlying HSPs and related motor neuron diseases.
"Look, the TMEM63C protein was exactly where you would expect it to be if it were involved in
these processes of lipid metabolism," says Beiple. So is the socket where the
ER of the endoplasmic reticulum (ER), the cellular hub for protein packaging, connects to
mitochondria to exchange lipids. Both organelles are deformed in cells lacking TMEM63C,
suggesting that this protein assists in organelle morphogenesis.

The next step is to see if and how this protein is involved in lipid processing, and whether the
cells of people with HSPs are deficient in this protein. he adds Baple. In the meantime,
identifying these genetic variants will have "immediate diagnostic advantage" for affected
families, Crosby told the scientist.