ARHGAP5 Chromosome 14

Rho GTPase activating protein 5

2 variants 2 Health Risk

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What This Gene Does

Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Rho GTPase activating proteins

Locus Type

gene with protein product

Location

14q12

Ensembl

ENSG00000100852

Associated Conditions (2)

Martsolf syndrome 1

Pulmonary artery atresia

Key Variants

RS2550691751

Likely pathogenic

Martsolf syndrome 1, Martsolf syndrome 1

Health Risk

RS200111638

Pathogenic

Pulmonary artery atresia, Pulmonary artery atresia

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2550691751	Health Risk	Likely pathogenic	Martsolf syndrome 1, Martsolf syndrome 1
RS200111638	Health Risk	Pathogenic	Pulmonary artery atresia, Pulmonary artery atresia