CRYAB wt Allele

Preferred Label : CRYAB wt Allele;

NCIt synonyms : Crystallin, Alpha-B Gene; CMD1II; Crystallin, Alpha-2 Gene; Crystallin, Alpha B wt Allele; CTRCT16; HSPB5; HEL-S-101; CRYA2; MFM2; CTPP2;

NCIt definition : Human CRYAB wild-type allele is located within 11q22.3-q23.1 and is approximately 15 kb in length. This allele, which encodes alpha-crystallin B chain protein, plays a role in maintaining the structure of the lens. Mutation of the gene is associated with myofibrillar myopathy type 2, dilated cardiomyopathy type 1II; cataract 16 and alpha-B crystallin-related, fatal infantile hypertrophy myofibrillar myopathy.;

NCIt note : Expression of CRYAB in breast cancer may be associated with increased metastasis. (Clinical Cancer Research, 2013; DOI: 10.1158/1078-0432.CCR-13-1255);

GenBank Accession Number : NM_001885;

Details

Origin ID

C115114;

UMLS CUI

C3890600;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1ii [OMIM Phenotype]
- Cataract 16, multiple types [OMIM Phenotype]
- Crystallin, alpha-b [OMIM gene]
- Myopathy, myofibrillar, 2 [OMIM Phenotype]
- cataract 16 multiple types [DO Concept]
- crystallin alpha B [ORDO Gene]
- dilated cardiomyopathy 1II [DO Concept]
OMIM relation
- Crystallin, alpha-b [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
- Negative Regulation of Cell Death [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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