Gene: OPHN1

Alternate names for this Gene: ARHGAP41|MRX60|OPN1

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq12

Description of this Gene: oligophrenin 1

Type of Gene: protein-coding

rs140488081 in OPHN1 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs7061504 in OPHN1 gene and Alopecia, Androgenetic, 1 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs7061504 in OPHN1 gene and Alopecia, Androgenetic, 2 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs7061504 in OPHN1 gene and Alopecia, Androgenetic, 3 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs12011480 in OPHN1 gene and Alopecia, Male Pattern PMID 22693459 2012 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.

PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs7061504 in OPHN1 gene and Androgenetic Alopecia PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs7061504 in OPHN1 gene and Other alopecia PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.