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PMID:10192385

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Citation

Yasunaga, S, Grati, M, Cohen-Salmon, M, El-Amraoui, A, Mustapha, M, Salem, N, El-Zir, E, Loiselet, J and Petit, C (1999) A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat. Genet. 21:363-9

Abstract

Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense mutation was detected in four unrelated affected families of Lebanese origin. OTOF is the second member of a mammalian gene family related to Caenorhabditis elegans fer-1. It encodes a predicted cytosolic protein (of 1,230 aa) with three C2 domains and a single carboxy-terminal transmembrane domain. The sequence homologies and predicted structure of otoferlin, the protein encoded by OTOF, suggest its involvement in vesicle membrane fusion. In the inner ear, the expression of the orthologous mouse gene, mainly in the sensory hair cells, indicates that such a role could apply to synaptic vesicles.

Links

PubMed Online version:10.1038/7693

Keywords

Amino Acid Sequence; Animals; Caenorhabditis elegans Proteins; Chromosome Mapping; Cloning, Molecular; Deafness/genetics; Ear, Inner/metabolism; Female; Gene Expression; Genetic Linkage; Genetic Markers; Helminth Proteins/genetics; Humans; Membrane Proteins/genetics; Membrane Proteins/metabolism; Mice; Molecular Sequence Data; Mutation; Pedigree; Sequence Homology, Amino Acid

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:OTOF

located_in

GO:0005829: cytosol

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:OTOF

located_in

GO:0016021: integral component of membrane

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:OTOF

part_of

GO:0005829: cytosol

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:OTOF

involved_in

GO:0007605: sensory perception of sound

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:OTOF

part_of

GO:0016021: integral component of membrane

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:OTOF

involved_in

GO:0061025: membrane fusion

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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