collagen 6 alpha-2 (COL6A2)
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Function
- collagen 6 acts as a cell-binding protein
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- trimers composed of three different chains: COL6A1, COL6A2, & COL6A3 or COL6A5 or COL6A6
- interacts with CSPG4
Structure
- belongs to the type VI collagen family
- contains 3 VWFA domains
Compartment
- secreted, extracellular space, extracellular matrix
- peripheral membrane; recruited on membranes by CSPG4
Alternative splicing
named isoforms=3; 2C2, 2C2A, 2C2A'
Pathology
- defects in COL6A2 are a cause of
- defects in COL6A2 are the cause of myosclerotic myopathy
More general terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/P12110.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL6A2
- ↑ Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
- ↑ OMIM https://mirror.omim.org/entry/120240
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1292
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1292
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1292
- OMIM: https://mirror.omim.org/entry/120240
- OMIM: https://mirror.omim.org/entry/158810
- OMIM: https://mirror.omim.org/entry/254090
- OMIM: https://mirror.omim.org/entry/255600
- UniProt: http://www.uniprot.org/uniprot/P12110.html