Entrez gene ID | | 51062 |
Official gene symbol | | ATL1 |
Full name | | atlastin GTPase 1 |
Aliases | | ,AD-FSP,FSP1,GBP3,SPG3,SPG3A,atlastin1, |
Gene 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] |
Location | | Chromosome: 14 Locus: 14q22.1 |
Gene position | | 50999800 - 51099786 Map Viewer |
Gene orientation | | plus |
Gene size | | 99987 bp |
Gene sequence |
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OMIM ID | | 606439 |
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