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Type IV collagen is the major structural component of the glomerular basement membrane (GBM), forming a hexagonal network together with lamins, proteoglycans, and nestin. Deletions of the N-terminal regions of COL4A5 and COL4A6 were found in Xq22.3 chromosome deletion syndrome and were located in an end-to-end manner. This results in a phenotype characteristic of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
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