collagen 6 alpha-1 (COL6A1)
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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
Structure
- belongs to the type VI collagen family
- contains 3 VWFA domains
Compartment
secreted, extracellular space, extracellular matrix (putative)
Pathology
- defects in COL6A1 are a cause of
More general terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/P12109.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL6A1
- ↑ 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/120220
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1291
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1291
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1291
- OMIM: https://mirror.omim.org/entry/120220
- OMIM: https://mirror.omim.org/entry/158810
- OMIM: https://mirror.omim.org/entry/254090
- UniProt: http://www.uniprot.org/uniprot/P12109.html