ARHGEF10 gene

Rho guanine nucleotide exchange factor 10

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May play a role in developmental myelination of peripheral nerves.

From NCBI Gene:

  • Slowed nerve conduction velocity, autosomal dominant

From UniProt:

Slowed nerve conduction velocity (SNCV): Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant. [MIM:608236]

Cytogenetic Location: 8p23.3, which is the short (p) arm of chromosome 8 at position 23.3

Molecular Location: base pairs 1,823,976 to 1,958,641 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8p23.3, which is the short (p) arm of chromosome 8 at position 23.3
  • GEF10
  • SNCV