Gene Symbol | RAB3GAP1 |
Entrez Gene ID | 22930 |
Full Name | RAB3 GTPase activating protein catalytic subunit 1 |
Synonyms | P130,RAB3GAP,RAB3GAP130,WARBM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. |
Disorder MIM: | |
Disorder Html: | Warburg micro syndrome 1, 600118 (3) |