Synonyms:ALS5, CMT2X, ENTREZ:80208, HGNC:11226, KIAA1840, MIM:610844, NM_001160227, NM_025137, NP_001153699, NP_079413, SPG11 vesicle trafficking associated, spatacsin, SPG11, XM_006720700, XM_006720701, XM_017022634, XM_017022635, XM_017022636, XP_006720763, XP_006720764, XP_016878123, XP_016878124, XP_016878125, XR_001751402, XR_931917
Omim:OMIM:610844
Id:ENSG00000104133
Hgnc:HGNC:11226
Description:SPG11 vesicle trafficking associated, spatacsin
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]