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SPG11

Official Full Name
SPG11 vesicle trafficking associated, spatacsin
Organism
Homo sapiens
GeneID
80208
Background
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]
Synonyms
ALS5; CMT2X; KIAA1840;

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