OTOF

OTOF
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 Q8CCE7
RefSeq (mRNA) NM_004802.3 NM_031875
RefSeq (protein) NP_004793.2 NP_114081
Location (UCSC) Chr 2:
26.68 – 26.78 Mb
Chr 5:
30.67 – 30.76 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 3 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 6 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

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9381. 

External links

Further reading




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