COL10A1
Function
Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
Involvement in disease
Schmid type metaphyseal chondrodysplasia
SMCD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
Collagen alpha-1(X) chain, COL10A1