ARHGAP12

Chr 10

Rho GTPase activating protein 12

NCBI Gene: 94134 ENSG00000165322 UniProt: Q8IWW6

This gene encodes a GTPase-activating protein that converts Rho-type GTPases to their inactive GDP-bound state, regulating cellular processes including invasion and adhesion. Mutations cause autosomal recessive intellectual disability with variable features that may include developmental delay and neurological abnormalities. The gene is highly constrained against loss-of-function variation in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.60

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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