Preferred Label : GJB3 wt Allele;
NCIt synonyms : EKV; EKVP1; CX31; Gap Junction Protein, Beta-3, Gene; Gap Junction Protein, Beta 3, 31kDa Gene; Erythrokeratodermia Variabilis Gene; Connexin 31 Gene; Gap Junction Protein, Beta 3, 31kD (Connexin 31) Gene; DFNA2; Gap Junction Protein, Beta 3, 31kDa (Connexin 31) Gene; Gap Junction Protein, 31-kD Gene; Gap Junction Protein Beta 3 wt Allele; DFNA2B;
NCIt definition : Human GJB3 wild-type allele is located in the vicinity of 1p34.3 and is approximately
5 kb in length. This allele, which encodes gap junction beta-3 protein, is involved
in the intercellular transport of ions and small molecules. Mutation of the gene is
associated with erythrokeratodermia variabilis et progressiva 1, autosomal dominant
deafness 2B and digenic deafness GJB2/GJB3.;
NCI Metathesaurus CUI : CL1920848;
GenBank Accession Number : BC012918;
Origin ID : C201671;
UMLS CUI : C5890991;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
