Unlock Exclusive Discounts & Flash Sales! Click Here to Join the Deals on Every Wednesday!
Official Full Name: SPG11 vesicle trafficking associated, spatacsin
Also known as: ALS5; CMT2X; KIAA1840
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.