Matches in DBpedia 2014 for { <http://dbpedia.org/resource/OTOF> ?p ?o. }
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- OTOF abstract "Otoferlin is a protein that in humans is encoded by the OTOF gene.Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.".
- OTOF entrezgene "9381".
- OTOF wikiPageExternalLink br.fcgi?book=gene&part=dfnb9.
- OTOF wikiPageID "15181504".
- OTOF wikiPageRevisionID "593602023".
- OTOF hasPhotoCollection OTOF.
- OTOF requireManualInspection "no".
- OTOF summaryText "Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.".
- OTOF updateCitations "yes".
- OTOF updatePage "yes".
- OTOF updateProteinBox "yes".
- OTOF updateSummary "yes".
- OTOF type Biomolecule.
- OTOF type Protein.
- OTOF type BiologicalObject.
- OTOF comment "Otoferlin is a protein that in humans is encoded by the OTOF gene.Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion.".
- OTOF label "OTOF".
- OTOF label "OTOF".
- OTOF label "OTOF".
- OTOF sameAs OTOF.
- OTOF sameAs OTOF.
- OTOF sameAs m.03hl1p2.
- OTOF sameAs Q7073103.
- OTOF sameAs Q7073103.
- OTOF sameAs OTOF.
- OTOF wasDerivedFrom OTOF?oldid=593602023.
- OTOF isPrimaryTopicOf OTOF.