OPHN1

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OPHN1
Identifiers
Aliases OPHN1, ARHGAP41, MRX60, OPN1, oligophrenin 1
External IDs MGI: 2151070 HomoloGene: 1913 GeneCards: OPHN1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002547

NM_052976
NM_001313754
NM_001313755
NM_001313756

RefSeq (protein)

NP_002538

Location (UCSC) Chr X: 68.04 – 68.43 Mb Chr X: 98.55 – 98.89 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.[3][4][5]

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 intellectual disability (previously called mental retardation), particularly. in association with hypoplastic cerebellar features and commonly congenital strabismus[5]

In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: OPHN1 oligophrenin 1". 

Further reading[edit]


In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.