Gene Symbol | SPG11 |
Entrez Gene ID | 80208 |
Full Name | SPG11, spatacsin vesicle trafficking associated |
Synonyms | ALS5,CMT2X,KIAA1840 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 11, autosomal recessive, 604360 (3); Amyotrophic lateral sclerosis 5, juvenile, 602099 (3); Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) |