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COL10A1

Official Full Name
collagen, type X, alpha 1
Background
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).
Synonyms
COL10A1; collagen, type X, alpha 1; collagen alpha-1(X) chain; collagen X, alpha-1 polypeptide; Schmid metaphyseal chondrodysplasia
; Schmid metaphyseal chondrodysplasia

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