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COL2A1

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For Research Use Only. Not For Clinical Use.


Background

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.
Protein class

Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes

Predicted location

Secreted

Single cell type specificity

Cell type enhanced (Enteroendocrine cells, Muller glia cells, Early spermatids, Late spermatids)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (AF22, HAP1, HEK93)

Interaction

Homotrimers of alpha 1(II) chains.

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