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
Other Designations:
OTTHUMP00000017049,OTTHUMP00000040411,Schmid metaphyseal chondrodysplasia,collagen X, alpha-1 polypeptide,type X collagen alpha 1