LP189382-7
DFNB31 gene
Active
Description
The DFNB31 gene (deafness, autosomal recessive 31) [HGNC Gene ID:16361] is located on chromosome 9q32. This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010] [NCBI Gene ID:25861] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- DFNB31 gene
- Part Display Name
- DFNB31 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-04
- Construct for LOINC Short Name
- DFNB31
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP189382-7
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | DFNB31 基因 Synonyms: 耳聋（聋、 |
| it-IT | Italian (Italy) | DFNB31, gene Synonyms: Gene DFNB31 |
| tr-TR | Turkish (Turkey) | DFNB31 geni |
| es-ES | Spanish (Spain) | Gen DFNB31 |
| nl-NL | Dutch (Netherlands) | DFNB31-gen Synonyms: DFNB31 gen |
| el-GR | Greek (Greece) | Γονίδιο DFNB31 Synonyms: Γονίδιο DFNB31 |
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