RAB3GAP2 Antibody – Rabbit

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.[provided by RefSeq, Oct 2009]

RAB3GAP2: Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3- GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non- synaptic vesicular release of neurotransmitters. Defects in RAB3GAP2 are the cause of Martsolf syndrome (MARTS). Martsolf syndrome is characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. Defects in RAB3GAP2 are the cause of Warburg micro syndrome type 2 (WARBM2). WARBM2 is a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Belongs to the Rab3-GAP regulatory subunit family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: GAPs, Rab; GAPs

Chromosomal Location of Human Ortholog: 1q41

Cellular Component: protein complex; cytoplasm; plasma membrane

Molecular Function: protein heterodimerization activity; enzyme activator activity; Rab guanyl-nucleotide exchange factor activity; Rab GTPase binding; enzyme regulator activity; GTPase activator activity

Biological Process: positive regulation of catalytic activity; intracellular protein transport; regulation of GTPase activity; positive regulation of GTPase activity

Disease: Martsolf Syndrome; Warburg Micro Syndrome 2