OPHN1

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

Description

oligophrenin 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

X:q12 (68042344 - 68433913)

Ensembl ID

ENSG00000079482  (ver. 99.38)

Orthologs

Mouse Ophn1: ENSMUSG00000031214

UniProt

O60890

neXtProt

NX_O60890

Human splice variants
Mouse splice variants