ARHGEF7 Chromosome 13

Rho guanine nucleotide exchange factor 7
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000102606
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS149212045 Health Risk Conflicting classifications of pathogenicity
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