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COL10A1 / Collagen X is 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).
Gene Name: | collagen, type X, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL10A1, Collagen alpha-1(X) chain, Collagen, type X, alpha 1 |
Target Sequences: | NM_000493 NP_000484.2 Q03692 |
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