COL6A3 wt Allele

Preferred Label : COL6A3 wt Allele;

NCIt synonyms : UCMD1; Collagen, Type VI, Alpha-3 Gene; BTHLM1; Collagen, Type VI, Alpha 3 Gene; DYT27; Collagen Type VI Alpha 3 Chain wt Allele;

NCIt definition : Human COL6A3 wild-type allele is located in the vicinity of 2q37.3 and is approximately 90 kb in length. This allele, which encodes collagen alpha-3(VI) chain protein, is involved in beaded filament collagen formation. Mutation of the gene is associated with Bethlem myopathy, type 27 dystonia and Ullrich congenital muscular dystrophy.;

NCI Metathesaurus CUI : CL552366;

GenBank Accession Number : X52022;

Détails

Origin ID

C150666;

UMLS CUI

C4723883;

Automatic exact mappings (from CISMeF team)
- Bethlem myopathy 1a [OMIM Phenotype]
- Ullrich congenital muscular dystrophy 1a [OMIM Phenotype]
OMIM relation
- Collagen, type VI, alpha-3 [OMIM gene]
See also inter- (CISMeF)
- Dystonia 27 [OMIM Phenotype]
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_is_element_in_pathway
- ECM-Receptor Interaction Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Integrin Angiogenesis Pathway [NCIt concept]
- Syndecan-1-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

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