Collagen type IV, alpha 2
The gene COL4A2 encodes a collagen alpha chain that is present in almost all basement membranes. It is coexpressed with COL4A1. As with COL4A1, pathogenetic mutation are documentet in relation to porencephaly, small-vessel disease, and stroke.
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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Jeanne M et al. (2012) COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
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Verbeek E et al. (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease.
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Solomon E et al. (1987) The human alpha 2(IV) collagen gene, COL4A2, is syntenic with the alpha 1(IV) gene, COL4A1, on chromosome 13.
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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 291813
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NCBI article
NCBI 1284
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OMIM.ORG article
Omim 120090
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Wikipedia article
Wikipedia EN (Collagen,_type_IV,_alpha_2)
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Update: Aug. 14, 2020