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COL10A1

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).
Protein class

Disease related genes, Human disease related genes

Predicted location

Secreted

Single cell type specificity

Cell type enhanced (Oligodendrocytes, Excitatory neurons, Microglial cells, Inhibitory neurons)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (hTEC/SVTERT24-B)

Interaction

Homotrimer.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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