Entrez gene ID | | 1300 |
Official gene symbol | | COL10A1 |
Full name | | collagen, type X, alpha 1 |
Aliases | | ,-, |
Gene summary | | 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). [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6q21-q22 |
Gene position | | 116447296 - 116440085 Map Viewer |
Gene orientation | | minus |
Gene size | | 7212 bp |
Gene sequence |
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