Gene Symbol | COL10A1 |
Entrez Gene ID | 1300 |
Full Name | collagen type X alpha 1 chain |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Metaphyseal chondrodysplasia, Schmid type, 156500 (3) |