Gene Symbol | ATL1 |
Entrez Gene ID | 51062 |
Full Name | atlastin GTPase 1 |
Synonyms | AD-FSP,FSP1,GBP3,HSN1D,SPG3,SPG3A,atlastin1 |
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 GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 3A, autosomal dominant, 182600 (3); Neuropathy, hereditary sensory, type ID, 613708 (3) |