Collagen Type X (COL10) ELISA Kit for Pigeon

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]

COL10A1: Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage. Defects in COL10A1 are the cause of Schmid type metaphyseal chondrodysplasia (SMCD). SMCD is a dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 6q21-q22

Cellular Component: proteinaceous extracellular matrix; collagen; endoplasmic reticulum lumen; extracellular region; cell cortex

Molecular Function: metal ion binding

Biological Process: extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; cartilage development; skeletal development; endochondral ossification

Disease: Metaphyseal Chondrodysplasia, Schmid Type