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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This gene is involved in the organization of the epithelial basement membrane.
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Human COL4A6 wild-type allele is located in the vicinity of Xq22 and is approximately 284 kb in length. This allele, which encodes…
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This gene plays a role in the compositional regulation of basement membranes.
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Human COL4A5 wild-type allele is located in the vicinity of Xq22 and is approximately 258 kb in length. This allele, which encodes…
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This gene is involved in the determination of the structure of the extracellular matrix.
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Human COL4A3BP wild-type allele is located in the vicinity of 5q13.3 and is approximately 141 kb in length. This allele, which encodes…
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