Health / Medical Topics |
COL4A6 wt Allele
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. (NCI Thesaurus)
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