ARHGEF25 Chromosome 12

Rho guanine nucleotide exchange factor 25

1 variant 1 Health Risk

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What This Gene Does

Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Gene Info

Gene Group

Dbl family Rho GEFs

Locus Type

gene with protein product

Location

12q13.3

Ensembl

ENSG00000240771

Associated Conditions (1)

Moyamoya angiopathy

Key Variants

RS778066908

Likely pathogenic

Moyamoya angiopathy, Moyamoya angiopathy

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS778066908	Health Risk	Likely pathogenic	Moyamoya angiopathy, Moyamoya angiopathy