A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Nat Genet
; 21(4): 363-9, 1999 Apr.
Article
en En
| MEDLINE
| ID: mdl-10192385
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas de Caenorhabditis elegans
/
Sordera
/
Proteínas de la Membrana
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Animals
/
Female
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Humans
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1999
Tipo del documento:
Article
País de afiliación:
Francia
Pais de publicación:
Estados Unidos