Health / Medical Topics |
COL7A1 wt Allele
Human COL7A1 wild-type allele is located in the vicinity of 3p21.1 and is approximately 31 kb in length. This allele, which encodes collagen alpha-1(VII) chain protein, plays a role in interactions between squamous epithelia and the basement membrane. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. (NCI Thesaurus)
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