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COL7 encodes the alpha chain of type VII collagen. Additionally we are shipping Collagen, Type VII Antibodies (57) and and many more products for this protein.
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The identified mutation causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 (show COL7A1 ELISA Kits) function (p.R1586*). We thus have identified a candidate causative
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.
collagen alpha-1(VII) chain
, collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
, collagen, type VII, alpha 1
, alpha 1 type VII collagen
, collagen alpha-1(VII) chain-like