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Col4a1

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Col4a1

Collagen, type IV, alpha 1
PDB rendering based on 1li1.
Available structures
PDB Ortholog search: RCSB
Identifiers
COL4A1 Gene
RNA expression pattern

Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene.[1][2]

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]

Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps).[3]

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on COL4A1-Related Disorders - Autosomal Dominant Type 1 Porencephaly; Brain Small Vessel Disease with Hemorrhage; Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps



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