Gene Symbol | ARHGEF6 |
Entrez Gene ID | 9459 |
Full Name | Rac/Cdc42 guanine nucleotide exchange factor 6 |
Synonyms | COOL2,Cool-2,MRX46,PIXA,alpha-PIX,alphaPIX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked 46, 300436 (3) |