Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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:

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:

HANAC syndrome
COL4A1
COL4A2
Porencephaly 1
COL4A1
Brain small vessel disease with hemorrhage
COL4A1
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.

external link
2.

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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4.

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

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5.

Orphanet article

Orphanet ID 120716 external link
6.

NCBI article

NCBI 1282 external link
7.

OMIM.ORG article

Omim 120130 external link
8.

Wikipedia article

Wikipedia EN (Collagen,_type_IV,_alpha_1) external link
Update: Aug. 14, 2020
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