OPHN1 gene

oligophrenin 1

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

From NCBI Gene:

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 mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

From UniProt:

Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation.

From NCBI Gene:

  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

From UniProt:

Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. [MIM:300486]

Cytogenetic Location: Xq12, which is the long (q) arm of the X chromosome at position 12

Molecular Location: base pairs 68,042,344 to 68,433,841 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq12, which is the long (q) arm of the X chromosome at position 12
  • ARHGAP41
  • MRX60
  • OPN1