Gene: ARHGEF10

Alternate names for this Gene: GEF10|SNCV

Gene Summary: This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.3

Description of this Gene: Rho guanine nucleotide exchange factor 10

Type of Gene: protein-coding

rs587777712 in ARHGEF10 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs2280823 in ARHGEF10 gene and Corneal Topography PMID 24963161 2014 CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

rs28940281 in ARHGEF10 gene and Slowed Nerve Conduction Velocity, Autosomal Dominant PMID 14508709 2003 Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.