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Otoferlin (OTOF)

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DFNB6; DFNB9; FER1L2; NSRD9; Fer-1-like protein 2

Otoferlin (OTOF)
CCC C698
HGNC 8515
MGI 1891247
PubMed 17055430
RGD 620646
UniProt Q9HC10
Wiki Otoferlin
Otoferlin is a protein 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 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.Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Otoferlin (OTOF) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Otoferlin (OTOF) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Otoferlin (OTOF) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Otoferlin (OTOF) CLIA Kit Customized Service Offer
n/a ELISA Kit for Otoferlin (OTOF) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Otoferlin (OTOF) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Otoferlin (OTOF) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Otoferlin (OTOF) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Otoferlin (OTOF) CLIA Kit Customized Service Offer
n/a ELISA Kit for Otoferlin (OTOF) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Otoferlin (OTOF) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Otoferlin (OTOF) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Otoferlin (OTOF) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Otoferlin (OTOF) CLIA Kit Customized Service Offer
n/a ELISA Kit for Otoferlin (OTOF) ELISA Kit Customized Service Offer
  1. "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness."Nat. Genet. 21:363-369(1999) [PubMed] [Europe PMC] [Abstract]
  2. "OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9."Am. J. Hum. Genet. 67:591-600(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss."J. Med. Genet. 39:502-506(2002) [PubMed] [Europe PMC] [Abstract]
  6. "Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness."Neurobiol. Dis. 10:157-164(2002) [PubMed] [Europe PMC] [Abstract]
  7. "A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy."Am. J. Med. Genet. A 138:6-10(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing."Clin. Genet. 68:506-512(2005) [PubMed] [Europe PMC] [Abstract]
  9. "OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele."J. Med. Genet. 43:576-581(2006) [PubMed] [Europe PMC] [Abstract]
  10. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  11. "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. 29:823-831(2008) [PubMed] [Europe PMC] [Abstract]