Gene Symbol | OTOGL |
Entrez Gene ID | 283310 |
Full Name | otogelin like |
Synonyms | C12orf64,DFNB84B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 84B, 614944 (3) |