Entrez gene ID | | 25782 |
Official gene symbol | | RAB3GAP2 |
Full name | | RAB3 GTPase activating protein subunit 2 (non-catalytic) |
Aliases | | ,DKFZp434D245,FLJ14579,KIAA0839,RAB3-GAP150,RAB3GAP150,p150, |
Gene summary | | The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome. |
Location | | Chromosome: 1 Locus: 1q41 |
Gene position | | 220445843 - 220321610 Map Viewer |
Gene orientation | | minus |
Gene size | | 124234 bp |
Gene sequence |
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OMIM ID | | 609275 |
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