Gap junction protein, beta-3

Preferred Label : Gap junction protein, beta-3;

Symbol : GJB3;

CISMeF acronym : CX31; GJB3;

Type : Gene and phenotype, combined;

Alternative titles and symbols : Gap junction protein, 31-kd; Connexin 31; CX31;

Included titles and symbols : Deafness, autosomal recessive; Deafness, autosomal dominant, with peripheral neuropathy;

Description : Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family that includes GJB3.;

Prefixed ID : 603324;

Details

Origin ID

603324;

UMLS CUI

C1415078;

Automatic exact mappings (from CISMeF team)
- GJB3 gene [LOINC component]
- GJB3 protein, human [MeSH concept]
- GJB3 protein, human [MeSH Supplementary Concept]
- deafness, autosomal recessive [MeSH concept]
- deafness, autosomal recessive [MeSH Supplementary Concept]
- gap junction protein beta 3 [HGNC gene]
- gap junction protein beta 3 [ORDO Gene]
NCIt concept(s)
- GJB3 Gene [NCIt concept]
- GJB3 wt Allele [NCIt concept]
- Gap Junction Beta-3 Protein [NCIt concept]
ORDO concept(s)
- gap junction protein beta 3 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GJB3 gene [LOINC component]
- gap junction protein beta 3 [HGNC gene]

Keyword's position in hierarchy(ies) :

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