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collagen 10 alpha-1 (COL10A1)

Function: - type 10 collagen is a product of hypertrophic chondrocytes - Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains Structure: - homotrimer - contains 1 C1q domain Compartment: - secreted, extracellular space, extracellular matrix (putative) Expression: -localized to presumptive mineralization zones of hyaline cartilage Pathology: - defects in COL10A1 are the cause of Schmid type metaphyseal chondrodysplasia

Related

COL10A1 or collagen 10 alpha-1 gene

General

Ca+2 binding protein collagen subunit

Properties

MOTIF: collagenous triplet MOTIF: glycine residue proline residue hydroxyproline residue Ca+2-binding site

Database Correlations

OMIM correlations MORBIDMAP 120110 UniProt Q03692 PFAM correlations Entrez Gene 1300 Kegg hsa:1300

References

  1. UniProt :accession Q03692
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL10A1
  3. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  4. Entrez Gene :accession 1300

Component-of

collagen type-10