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COL7A1

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Secreted (different isoforms)

Single cell type specificity

Cell type enhanced (Basal keratinocytes, Basal squamous epithelial cells, Basal respiratory cells, Endometrial stromal cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (BJ, HaCaT, HBEC3-KT, HDLM-2, HeLa, SiHa)

Interaction

Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.

Molecular function

Protease inhibitor, Serine protease inhibitor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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