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-Hair Hypoplasia. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL8A2.
UniProtKB/Swiss-Prot Summary for COL10A1 Gene
Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.