5naz | pdb_00005naz
From Proteopedia
Crystal structures of homooligomers of collagen type IV. alpha5NC1
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Structural highlights
Disease[CO4A5_HUMAN] X-linked diffuse leiomyomatosis - Alport syndrome;X-linked Alport syndrome. The disease is caused by mutations affecting the gene represented in this entry. Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS). Function[CO4A5_HUMAN] Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Contents | ||||||||||||||||||
This page was last modified 07:27, 12 September 2018.