COL6A1 wt Allele

Preferred Label : COL6A1 wt Allele;

NCIt synonyms : Collagen, Type VI, Alpha-1 Gene; BTHLM1; Collagen VI, Alpha-1 Polypeptide Gene; UCHMD1; UCHMD1A; OPLL; Collagen Type VI Alpha 1 Chain wt Allele; Collagen, Type VI, Alpha 1 Gene; Collagen, Intimal Gene; BTHLM1A; Short-Chain Collagen Gene;

NCIt definition : Human COL6A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 23 kb in length. This allele, which encodes collagen alpha-1(VI) chain protein, plays a role in the formation of extracellular matrix microfilaments. Mutations in the gene are associated with Bethlem myopathy 1A and Ullrich congenital muscular dystrophy 1A.;

GenBank Accession Number : M20776;

Détails

Origin ID

C215721;

OMIM relation
- Collagen, type VI, alpha-1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 21q22.3 [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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