Disease-gene associations mined from literature

Literature associating RAB3GAP2 and frontometaphyseal dysplasia

RAB3GAP2 [ENSP00000351832]

RAB3 GTPase activating protein subunit 2 (non-catalytic); 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.

Synonyms:  RAB3GAP2,  AURKAPS1,  F8WDJ2,  Q9H2M9,  DKFZP434D245 ...

Linkouts:  STRING  Pharos  UniProt  OMIM