" /> COL4A6 wt Allele - CISMeF





Preferred Label : COL4A6 wt Allele;

NCIt synonyms : COL4A6; Collagen IV (Alpha 6) Gene; Collagen, Type IV, Alpha-6 Gene; DFNX6; Collagen, Type IV, Alpha 6 Gene; Collagen Type IV Alpha 6 Chain wt Allele; DELXq22.3; CXDELq22.3; DJ889N15.4 (Collagen Alpha 6(IV)) Gene; Collagen of Basement Membrane, Alpha-6 Gene;

NCIt definition : Human COL4A6 wild-type allele is located in the vicinity of Xq22 and is approximately 284 kb in length. This allele, which encodes collagen alpha-6 (IV) chain protein, is involved in the regulation of the conformation of the basement membrane. Deletion of the gene is associated with diffuse leiomyomatosis with Alport syndrome.;

NCIt note : The COL4A6 gene is organized in a head-to-head conformation with the COL4A5 gene, so that the gene pair shares a common promoter. Deletions in the COL4A5 gene can extend into the COL4A6 gene. (Entrez Gene);

GenBank Accession Number : NM_001847;

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26/05/2025


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