ARHGAP17

Chr 16

Rho GTPase activating protein 17

Also known as: MST066, MST110, MSTP038, MSTP066, MSTP110, NADRIN, PP367, PP4534

NCBI Gene: 55114 ENSG00000140750 UniProt: Q68EM7

RICH1 is a GTPase-activating protein that regulates CDC42 and other Rho family GTPases to maintain tight junctions and apical polarity in epithelial cells, and participates in calcium-dependent exocytosis. The gene is highly constrained against loss-of-function variants (LOEUF 0.442), suggesting intolerance to protein-disrupting mutations. No established Mendelian disease associations have been reported for ARHGAP17 mutations.

ResearchSummary from RefSeq, UniProt

RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.44

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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