Gap Junction beta-1 Protein

Preferred Label : Gap Junction beta-1 Protein;

MeSH definition : A GAP JUNCTION beta subunit containing four transmembrane domains expressed in myelinating SCHWANN CELLS and is localized to peripheral MYELIN (e.g., noncompact myelin in the paranode and Schmitt-Lanterman incisures). Mutations in the human gene GJB1 are associated with X-linked CHARCOT-MARIE-TOOTH DISEASE type 1 (CMT1X).;

MeSH synonym : Gap Junction beta 1 Protein; Cx32 Protein; Protein, Cx32; Connexin 32; Connexin 32 Protein; Protein, Connexin 32; Gap Junction beta1 Protein; Gap Junction B1; GJB1 Protein; Protein, GJB1;

Details

Origin ID

D000097002;

UMLS CUI

C1415076;

Allowable qualifiers
- administration and dosage [MeSH Qualifier]
- adverse effects [MeSH Qualifier]
- agonists [MeSH Qualifier]
- analysis [MeSH Qualifier]
- antagonists and inhibitors [MeSH Qualifier]
- biosynthesis [MeSH Qualifier]
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemical synthesis [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- economics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- isolation and purification [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- pharmacokinetics [MeSH Qualifier]
- pharmacology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- poisoning [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- standards [MeSH Qualifier]
- supply and distribution [MeSH Qualifier]
- therapeutic use [MeSH Qualifier]
- toxicity [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
Record concept(s)
- Gap Junction beta-1 Protein [MeSH concept]
Related MeSH Supplementary Concept(s)
- GJB1 protein, human [MeSH Supplementary Concept]
- Gjb1 protein, mouse [MeSH Supplementary Concept]
- Gjb1 protein, rat [MeSH Supplementary Concept]
- gjb1 protein, Xenopus [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Gap junction protein, beta-1 [OMIM gene]
- gap junction protein beta 1 [ORDO Gene]
- gap junction protein beta 1 [HGNC gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GJB1 Gene [NCIt concept]
- GJB1 gene [LOINC component]
- Gap junction protein, beta-1 [OMIM gene]
- gap junction protein beta 1 [HGNC gene]

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