OTOF

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Otoferlin
Identifiers
Symbols OTOF ; AUNB1; DFNB6; DFNB9; FER1L2; NSRD9
External IDs OMIM603681 MGI1891247 HomoloGene12892 GeneCards: OTOF Gene
RNA expression pattern
PBB GE OTOF 220492 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9381 83762
Ensembl ENSG00000115155 ENSMUSG00000062372
UniProt Q9HC10 Q9ESF1
RefSeq (mRNA) NM_004802 NM_001100395
RefSeq (protein) NP_004793 NP_001093865
Location (UCSC) Chr 2:
26.68 – 26.78 Mb
Chr 5:
30.37 – 30.46 Mb
PubMed search [1] [2]

Otoferlin is a protein that in humans is encoded by the OTOF gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999). "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness". Nat Genet 21 (4): 363–9. doi:10.1038/7693. PMID 10192385. 
  2. ^ Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (May 2008). "A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy". Hum Mutat 29 (6): 823–31. doi:10.1002/humu.20708. PMID 18381613. 
  3. ^ a b "Entrez Gene: OTOF otoferlin". 

External links[edit]

Further reading[edit]