Health / Medical Topics |
COL4A5 wt Allele
Human COL4A5 wild-type allele is located in the vicinity of Xq22 and is approximately 258 kb in length. This allele, which encodes collagen alpha-5(IV) chain protein, plays a role in the modulation of the conformation of the extracellular matrix. Mutation or deletion of the gene is associated with Alport syndrome. (NCI Thesaurus)
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