COL10A1 gene

collagen type X alpha 1 chain

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Metaphyseal chondrodysplasia, Schmid type

From UniProt:

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. [MIM:156500]

Cytogenetic Location: 6q22.1, which is the long (q) arm of chromosome 6 at position 22.1

Molecular Location: base pairs 116,118,909 to 116,218,698 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q22.1, which is the long (q) arm of chromosome 6 at position 22.1