Gene:
collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)
Gene ID:
206254
Symbol:
COL10A1
Species:
1000
Description:
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).