LP31866-4
GJB6 gene
Active
Description
The GJB6 gene (gap junction protein, beta 6, 30kDa) [HGNC Gene ID:4288] is located on chromosome 13q12. Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008] [NCBI Gene ID:10804] 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
- GJB6 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- GJB6 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GJB6 基因 Synonyms: Connexin 30; |
| et-EE | Estonian (Estonia) | GJB6 geen |
| es-ES | Spanish (Spain) | Gen GJB6 |
| it-IT | Italian (Italy) | GJB6, gene Synonyms: Gene GJB6 |
| tr-TR | Turkish (Turkey) | GJB6 geni |
| ru-RU | Russian (Russian Federation) | GJB6 ген |
| nl-NL | Dutch (Netherlands) | GJB6-gen Synonyms: GJB6 gen |
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