Collagen type IV, alpha 1
The gene COL4A1 encodes a collagen alpha chain that is present in almost all basement membranes. Mutations account for autosomal dominant renal, vascular, and neurological disorders.
Genetests:
Related Diseases:
References:
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Favor J et al. (2007) Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.
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Zhang KW et al. (2007) Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
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3. |
Pollner R et al. (1997) Cooperative and competitive interactions of regulatory elements are involved in the control of divergent transcription of human Col4A1 and Col4A2 genes.
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Sado Y et al. (1998) Organization and expression of basement membrane collagen IV genes and their roles in human disorders.
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Orphanet article
Orphanet ID 120716
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NCBI article
NCBI 1282
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7. |
OMIM.ORG article
Omim 120130
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8. |
Wikipedia article
Wikipedia EN (Collagen,_type_IV,_alpha_1)
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Update: Aug. 14, 2020