Scientific background: |
Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene. 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. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy,aneurysms, and muscle cramps). |
References: |
1. Mayne, R., Wiedemann, H., Irwin, M. H., Sanderson, R. D., Fitch, J. M., Linsenmayer, T. F., Kuhn, K.Monoclonal antibodies against chicken type IV and V collagens: electron microscopic mapping of the epitopes after rotary shadowing.J. Cell Biol. 98: 1637-1644, 1984.
2. Solomon, E., Hiorns, L. R., Spurr, N., Kurkinen, M., Barlow, D., Hogan, B. L. M., Dalgleish, R.Chromosomal assignments of the genes coding for human types II, III and IV collagen: a dispersed gene family.Proc. Nat. Acad. Sci. 82: 3330-3334, 1985.
3. Sudhakar, A., Nyberg, P., Keshamouni, V. G., Mannam, A. P., Li, J., Sugimoto, H., Cosgrove, D., Kalluri, R.Human alpha-1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha-1-beta-1 integrin.J. Clin. Invest. 115: 2801-2810, 2005.
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