Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
COL7A1
Name:
collagen type VII alpha 1 chain
Location:
03p21.31
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
Symbol:
Description: 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.
