Aliases COL10A1 Ensembl ENSG00000123500 | Entrez 1300 | |
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External IDs MGI: 88445 HomoloGene: 55466 GeneCards: COL10A1 |
Collagen alpha-1(X) chain is a protein that in humans is a member of the collagen family encoded by the COL10A1 gene.
This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD).
DDR2 is a collagen receptor for it.
Recent studies into the early detection of colon cancer have identified COL10A1 protein levels in serum as a potential diagnostic biomarker candidate to detect both adenoma lesions and tumor.
References
Collagen, type X, alpha 1 Wikipedia(Text) CC BY-SA