ARHGEF10

Chr 8AD

Rho guanine nucleotide exchange factor 10

Also known as: GEF10, SNCV

NCBI Gene: 9639 ENSG00000104728 UniProt: O15013 OMIM: 608136

This protein functions as a Rho guanine nucleotide exchange factor that regulates small Rho GTPases and may be involved in developmental myelination of peripheral nerves. Mutations cause slowed nerve conduction velocity with autosomal dominant inheritance. The gene shows minimal constraint against loss-of-function variants (pLI near zero), suggesting the phenotype may not result from simple protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Apr 2015]

OMIM ResearchGenerating clinical summary…