ARHGAP19

Chr 10AR

Rho GTPase activating protein 19

ENSG00000213390 UniProt: Q14CB8 OMIM: 611587

This protein functions as a GTPase activator that converts Rho-type GTPases to their inactive GDP-bound state, regulating cellular processes including migration, proliferation, and actin remodeling. Biallelic mutations cause Charcot-Marie-Tooth disease, axonal type 2KK, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Has GTPase activator activity toward RHOA; RHOA activation results in GTP hydrolysis and conversion from an active GTP-bound to an inactive GDP-bound state (PubMed:24259668, PubMed:41086021). Lacks GTPase activator activity toward RAC1 or CDC42 (PubMed:24259668)

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.101 OMIM phenotype

Clinical Summary— ARHGAP19

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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