Description
Product Characteristics:
ab 3 GAP p150 is a ubiquitously expressed protein that contains 1,393 amino acids and belongs to the Rab3-GAP regulatory subunit family. Defects in Rab 3 GAP p150 are the cause of Martsolf and Warburg Micro syndrome. Both syndromes are characterized by congenital cataracts, microphthalmia, postnatal microcephaly and developmental delay, and are inherited in an autosomal recessive manner. The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and Rab 3 GAP p150 that interacts with DMXL2. Existing as two alternatively spliced isoforms, the Rab 3 GAP p150 gene is conserved in chimpanzee, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, A.thaliana and rice. The Rab 3 GAP p150 gene contains 36 exons and maps to human chromosome 1q41.
Subcellular location: Cytoplasm
Synonyms: DKFZp434D245, FLJ14579, KIAA0839, p150, Rab3 GAP p150, Rab3 GAP regulatory subunit, Rab3 GAP150, Rab3 GTPase activating protein 150 kDa subunit, Rab3 GTPase activating protein non catalytic subunit, RAB3 GTPase activating protein subunit 2 non catalytic, RAB3 GTPase activating protein subunit 2, RAB3GAP150, RGAP iso, RP11 568G11.1, RBGPR_HUMAN.
Target Information: 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]