SPG11( Human )

Entrez Gene 80208 Entrez Gene 80208
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].

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