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.
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.