Collagen, type IV, alpha 1

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene.[1][2]

Function

This gene encodes the major type IV alpha collagen chain of basement membranes. 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.[2]

Clinical significance

Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps).[3] It has also been confirmed that mutations in the COL4A1 gene occur in some patients with porencephaly and schizencephaly.[4]

References

  1. ↑ Lua error in package.lua at line 80: module 'strict' not found.
  2. ↑ 2.0 2.1 Lua error in package.lua at line 80: module 'strict' not found.
  3. ↑ Lua error in package.lua at line 80: module 'strict' not found.
  4. ↑ Lua error in package.lua at line 80: module 'strict' not found.

Further reading

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External links


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