LP33150-1
GJB2 gene
Active
Description
The GJB2 gene (gap junction protein, beta 2, 26kDa) [HGNC Gene ID:4284] is located on chromosome 13q11-q12. This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2706] 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
- GJB2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-11
- Construct for LOINC Short Name
- GJB2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33150-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GJB2 基因 Synonyms: Connexin 26; |
| et-EE | Estonian (Estonia) | GJB2 geen |
| es-ES | Spanish (Spain) | Gen GJB2 |
| it-IT | Italian (Italy) | GJB2, gene Synonyms: Gene GJB2 |
| tr-TR | Turkish (Turkey) | GJB2 geni |
| ru-RU | Russian (Russian Federation) | GJB2 ген |
| nl-NL | Dutch (Netherlands) | GJB2-gen Synonyms: GJB2 gen |
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