OPHN1

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Oligophrenin 1
Identifiers
SymbolsOPHN1; ARHGAP41; MRX60; OPN1
External IDsOMIM: 300127 MGI: 2151070 HomoloGene: 1913 GeneCards: OPHN1 Gene
Orthologs
SpeciesHumanMouse
Entrez498394190
EnsemblENSG00000079482ENSMUSG00000031214
UniProtO60890Q99J31
RefSeq (mRNA)NM_002547NM_052976
RefSeq (protein)NP_002538NP_443208
Location (UCSC)Chr X:
67.26 – 67.65 Mb
Chr X:
98.55 – 98.89 Mb
PubMed search

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.[1][2][3]

Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked mental retardation.[3]

References

  1. Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". Eur J Hum Genet 5 (2): 105–9. PMID 9195162. 
  2. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (May 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072. 
  3. 3.0 3.1 "Entrez Gene: OPHN1 oligophrenin 1". 

Further reading

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