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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Alport Syndrome
COL4A3
COL4A4
COL4A5
Porencephaly 2
COL4A2

References:

1.

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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2.

Zhang KW et al. (2007) Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

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3.

Jeanne M et al. (2012) COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

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4.

Verbeek E et al. (2012) COL4A2 mutation associated with familial porencephaly and small-vessel disease.

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5.

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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6.

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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7.

Sado Y et al. (1998) Organization and expression of basement membrane collagen IV genes and their roles in human disorders.

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8.

Orphanet article

Orphanet ID 291813 external link
9.

NCBI article

NCBI 1284 external link
10.

OMIM.ORG article

Omim 120090 external link
11.

Wikipedia article

Wikipedia EN (Collagen,_type_IV,_alpha_2) external link
Update: Aug. 14, 2020
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