Aliases for COL10A1 Gene
External Ids for COL10A1 Gene
Previous GeneCards Identifiers for COL10A1 Gene
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]
GeneCards Summary for COL10A1 Gene
COL10A1 (Collagen Type X Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL10A1 include Metaphyseal Chondrodysplasia, Schmid Type and Cartilage Disease. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL8A1.
UniProtKB/Swiss-Prot for COL10A1 Gene
Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.