BAG3 wt Allele

Preferred Label : BAG3 wt Allele;

NCIt synonyms : BIS; BAG-3; BCL2-Associated Athanogene 3 wt Allele;

NCIt definition : Human BAG3 wild-type allele is located within 10q25.2-q26.2 and is approximately 26 kb in length. This allele, which encodes BAG family molecular chaperone regulator 3 protein, plays a role in the modulation of both apoptosis and protein folding. Mutation of the gene is associated with both myopathy myofibrillar type 6 and cardiomyopathy dilated type 1HH.;

GenBank Accession Number : AF095193;

Details

Origin ID

C105995;

UMLS CUI

C3811385;

Automatic exact mappings (from CISMeF team)
- BAG cochaperone 3 [ORDO Gene]
- Bcl2-associated athanogene 3 [OMIM gene]
- biphenyl synthase activity [GO term]
OMIM relation
- Bcl2-associated athanogene 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Chaperone Protein Inhibition [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]
- Protein Folding [NCIt concept]

Keyword's position in hierarchy(ies) :

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