LP188516-1
USH1C gene
Active
Description
The USH1C gene (Usher syndrome 1C (autosomal recessive, severe)) [HGNC Gene ID:12597] is located on chromosome 11p14.3. This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:10083] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- USH1C gene
- Part Display Name
- USH1C gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- USH1C
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | USH1C 基因 Synonyms: Usher 综合征 1C (常染色体隐性, 重度); |
| es-ES | Spanish (Spain) | Gen USH1C |
| it-IT | Italian (Italy) | USH1C, gene Synonyms: Gene USH1C |
| tr-TR | Turkish (Turkey) | USH1C geni |
| nl-NL | Dutch (Netherlands) | USH1C-gen Synonyms: USH1C gen |
| fr-FR | French (France) | USH1C gène |
| pl-PL | Polish (Poland) | USH1C gen Synonyms: Gen USH1C |
| el-GR | Greek (Greece) | Γονίδιο USH1C Synonyms: Γονίδιο USH1C |
LOINC Copyright
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