Rab 3 GAP Antikörper

Rab 3 GAP p130, also known as Rab3 GTPase-activating protein catalytic subunit, is a 981 amino acid protein that belongs to the Rab3-GAP catalytic subunit family. Rab 3 GAP p130 converts active RAB3-GTP to the inactive form RAB3-GDP, and is required for normal eye and brain development. Defects in Rab 3 GAP p130 are the cause of Warburg micro syndrome 1 (WARBM1). WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. The Rab 3 GAP p130 protein may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters. Rab 3 GAP p150, also known as RAB3GAP2 or Rab3 GTPase-activating protein non-catalytic subunit, 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.