SACS : sacsin molecular chaperone
Description
The SACS (sacsin molecular chaperone) is a protein-coding gene located on chromosome 13.
The SACS gene provides instructions for making a protein called sacsin. Found in the brain, skin, skeletal muscles, and pancreas, sacsin's specific function is still being researched. Evidence suggests that it helps organize proteins into bundles called intermediate filaments, which provide support and strength to cells. In neurons, these filaments, called neurofilaments, form the framework that defines the shape and size of axons, crucial for nerve impulse transmission.
Sacsin acts as a regulator of the Hsp70 chaperone machinery, a molecular machine that helps proteins fold correctly. This suggests that Sacsin might play a role in processing other proteins involved in ataxia, a group of disorders affecting movement coordination.
SACS is also known as ARSACS, DNAJC29, PPP1R138, SPAX6.
