LP35857-9
COCH gene
Active
Description
The COCH gene (cochlin) [HGNC Gene ID:2180] is located on chromosome 14q11.2-q13. The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008] [NCBI Gene ID:1690] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- COCH gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-07-11
- Construct for LOINC Short Name
- COCH gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | COCH 基因 Synonyms: COCH5B2; |
| et-EE | Estonian (Estonia) | COCH geen |
| es-ES | Spanish (Spain) | Gen COCH |
| it-IT | Italian (Italy) | COCH, gene Synonyms: Gene COCH |
| tr-TR | Turkish (Turkey) | COCH geni |
| ru-RU | Russian (Russian Federation) | COCH ген |
| nl-NL | Dutch (Netherlands) | COCH-gen Synonyms: COCH gen |
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