COL10A1

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 Integrin Pathway and ERK Signaling. An important paralog of this gene is COL8A2.

Collagen Type X Alpha 1 Chain

Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.

Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Skeletal system development Source: ProtInc

Extracellular matrix

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.

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.