This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.
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Protein Aliases: ARHGEF2; GEF H1; GEF-H1; GEFH1; Guanine nucleotide exchange factor H1; KIAA0651; LFP40; Microtubule regulated Rho GEF; Microtubule-regulated Rho-GEF; Proliferating cell nucleolar antigen p40; Rho guanine nucleotide exchange factor 2; Rho/Rac guanine nucleotide exchange factor (GEF) 2
Gene Aliases: ARHGEF2; GEF; GEF-H1; GEFH1; KIAA0651; LFP40; P40
UniProt ID: (Human) Q92974
Entrez Gene ID: (Human) 9181