SPG11( Human )
SPG11, spatacsin vesicle trafficking associated
Alias
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. [provided by RefSeq, May 2009].