RASA3

Chr 13

RAS p21 protein activator 3

Also known as: GAP1IP4BP, GAPIII

NCBI Gene: 22821 ENSG00000185989 UniProt: Q14644 OMIM: 605182

The protein functions as a GTPase-activating protein that negatively regulates Ras signaling by stimulating the GTPase activity of Ras p21 and binds inositol tetrakisphosphate with high affinity. Mutations in this gene cause microcephaly, seizures, intellectual disability, and cataracts, typically presenting in infancy with autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.71

LOEUF

Multiple*

Mechanism· predicted