DISEASES

Disease-gene associations mined from literature

Literature associating RAB3GAP1 and spastic cerebral palsy

RAB3GAP1 [ENSP00000411418]

RAB3 GTPase activating protein subunit 1 (catalytic); Probable catalytic 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. 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:  RAB3GAP1,  B9A6J2,  C9J1R5,  D3DP75,  Q15042 ...

Linkouts:  STRING  Pharos  UniProt  OMIM