GJB4 wt Allele

Preferred Label : GJB4 wt Allele;

NCIt synonyms : EKV; EKVP2; CX30.3; Connexin 30.3 Gene; Gap Junction Protein, Beta 4 Gene; Gap Junction Protein Beta 4 wt Allele; Gap Junction Protein, Beta-4 Gene; Gap Junction Protein, Beta 4 (Connexin 30.3) Gene;

NCIt definition : Human GJB4 wild-type allele is located in the vicinity of 1p34.3 and is approximately 3 kb in length. This allele, which encodes gap junction beta-4 protein, plays a role in gap junction assembly and connexin-dependent facilitative transport. Mutation of the gene is associated with erythrokeratodermia variabilis et progressiva 2.;

NCI Metathesaurus CUI : CL1920863;

GenBank Accession Number : NM_153212;

Details

Origin ID

C201674;

UMLS CUI

C5890990;

OMIM relation
- Gap junction protein, beta-4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.3 [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Intercellular Transport Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Olfaction [NCIt concept]
- Restricted Diffusion [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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