OPHN1

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Oligophrenin 1
Identifiers
Symbols OPHN1 ; ARHGAP41; MRX60; OPN1
External IDs OMIM300127 MGI2151070 HomoloGene1913 GeneCards: OPHN1 Gene
Orthologs
Species Human Mouse
Entrez 4983 94190
Ensembl ENSG00000079482 ENSMUSG00000031214
UniProt O60890 Q99J31
RefSeq (mRNA) NM_002547 NM_052976
RefSeq (protein) NP_002538 NP_443208
Location (UCSC) Chr X:
67.26 – 67.65 Mb
Chr X:
98.55 – 98.89 Mb
PubMed search [1] [2]

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[edit]

  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. ^ a b "Entrez Gene: OPHN1 oligophrenin 1". 

Further reading[edit]