COL6A2 wt Allele

Preferred Label : COL6A2 wt Allele;

NCIt synonyms : Collagen, Type VI, Alpha-2 Gene; Collagen Type VI Alpha 2 Gene; UCMD1B; Collagen VI, Alpha-2 Polypeptide Gene; BTHLM1; UCHMD1; Human mRNA mor Collagen VI Alpha-2 C-Terminal Globular Domain Gene; PP3610; Collagen, Type VI, Alpha 2 Gene; Collagen Type VI Alpha 2 Chain wt Allele; BTHLM1B;

NCIt definition : Human COL6A2 wild-type allele is located in the vicinity of 21q22.3 and is approximately 35 kb in length. This allele, which encodes collagen alpha-2(VI) chain protein, is involved in the promotion of cell-matrix adhesion. Mutations in the gene are associated with congenital myosclerosis, Bethlem myopathy 1B and Ullrich congenital muscular dystrophy 1B.;

GenBank Accession Number : M20777;

Détails

Origin ID

C215792;

OMIM relation
- Collagen, type VI, alpha-2 [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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