LP149237-2
GJB3 gene
Active
Description
The GJB3 gene (gap junction protein, beta 3, 31kDa) [HGNC Gene ID:4285] is located on chromosome 1p34. This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2707] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- GJB3 gene
- Part Display Name
- GJB3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2012-03-23
- Construct for LOINC Short Name
- GJB3 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GJB3 基因 Synonyms: CX31; |
| es-ES | Spanish (Spain) | Gen GJB3 |
| it-IT | Italian (Italy) | GJB3, gene Synonyms: Gene GJB3 |
| tr-TR | Turkish (Turkey) | GJB3 geni |
| ru-RU | Russian (Russian Federation) | GJB3 ген |
| nl-NL | Dutch (Netherlands) | GJB3-gen |
| fr-FR | French (France) | GJB3 gène |
| pl-PL | Polish (Poland) | GJB3 gen Synonyms: Gen GJB3 |
| el-GR | Greek (Greece) | Γονίδιο GJB3 Synonyms: Γονίδιο GJB3 |
LOINC Copyright
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