" /> COL17A1 wt Allele - CISMeF





Preferred Label : COL17A1 wt Allele;

NCIt synonyms : BA16H23.2 (Collagen, Type XVII, Alpha 1 (BP180)) Gene; BPAG2; Bullous Pemphigoid Antigen 2 (180kD) Gene; ERED; Collagen, Type XVII, Alpha 1 Gene; Collagen Type XVII Alpha 1 Chain wt Allele; LAD-1; BPA-2; BP180; Collagen, Type XVII, Alpha-1 Gene; BA16H23.2;

NCIt definition : Human COL17A1 wild-type allele is located in the vicinity of 10q25.1 and is approximately 55 kb in length. This allele, which encodes collagen alpha-1(XVII) chain protein, is involved in hemidesmosome formation and keratinocyte adhesion. Mutation of the gene and immunoreactivity during revertant mosaicism is associated with both generalized atrophic benign and junctional epidermolysis bullosa. Mutations in the gene are also associated with epithelial recurrent erosion dystrophy.;

NCI Metathesaurus CUI : CL1770626;

GenBank Accession Number : M91669;

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19/05/2024


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