Aliases for ARHGEF6 Gene
External Ids for ARHGEF6 Gene
Previous HGNC Symbols for ARHGEF6 Gene
Previous GeneCards Identifiers for ARHGEF6 Gene
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]
GeneCards Summary for ARHGEF6 Gene
ARHGEF6 (Rac/Cdc42 Guanine Nucleotide Exchange Factor 6) is a Protein Coding gene. Diseases associated with ARHGEF6 include Non-Syndromic X-Linked Intellectual Disability and Syndromic X-Linked Intellectual Disability. Among its related pathways are Cell junction organization and Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF7.
UniProtKB/Swiss-Prot Summary for ARHGEF6 Gene
Acts as a RAC1 guanine nucleotide exchange factor (GEF).