ARHGEF6 (Entrez ID: 9459)

Entrez Gene ID 9459
Official Gene Symbol ARHGEF6 (GeneCards)
Full name Rac/Cdc42 guanine nucleotide exchange factor 6
Location Xq26.3
Other ids Vega : OTTHUMG00000022518
MIM : 300267
HGNC : HGNC:685
Ensembl : ENSG00000129675
Other names PIXA, COOL2, MRX46, Cool-2, alphaPIX, alpha-PIX
Summary Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]

Variants

Found 2 variants in this database.