Preferred Label : GJB1 wt Allele;
NCIt synonyms : Gap Junction Protein, Beta-1 Gene; CMTX; Gap Junction Protein, Beta 1, 32kD (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked)
Gene; Charcot-Marie-Tooth Neuropathy, X-Linked Gene; CX32; Gap Junction Protein, Beta 1, 32kDa (Connexin 32, Charcot-Marie-Tooth Neuropathy,
X-Linked) Gene; Gap Junction Protein, Beta 1, 32kDa Gene; Liver Connexin Gene; Connexin 32 Gene; Gap Junction Protein Beta 1 wt Allele; Gap Junction Protein, Beta 1, 32kDa (Connexin 32) Gene; CMTX1; Gap Junction Protein, 32-kD Gene;
NCIt definition : Human GJB1 wild-type allele is located in the vicinity of Xq13.1 and is approximately
13 kb in length. This allele, which encodes gap junction beta-1 protein, plays a role
in gap junction-mediated facilitated diffusion. Mutation of the gene is associated
with X-linked dominant Charcot-Marie-Tooth neuropathy 1.;
NCI Metathesaurus CUI : CL1920849;
GenBank Accession Number : X04325;
Origin ID : C201668;
UMLS CUI : C5890914;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
