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COL4A5 gene

Known as: collagen type IV alpha 5, Collagen, Type IV, Alpha 5 (Alport Syndrome) Gene, COLLAGEN, TYPE IV, ALPHA-5 
This gene is involved in the determination of the structure of the extracellular matrix.
National Institutes of Health

Related topics

Related topics

8 relations
Alport SyndromeCOL4A1 geneCell AdhesionCell Movement

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.
Highly Cited
2000
Highly Cited
2000
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis… 
Highly Cited
1999
Highly Cited
1999
Detection of mutations in COL4A5 in patients with Alport Syndrome
Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming… 
Highly Cited
1999
Highly Cited
1999
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.
BACKGROUND The COL4A3-COL4A4-COL4A5 network in the glomerular basement membrane is affected in the inherited renal disorder… 
Highly Cited
1998
Highly Cited
1998
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
Approximately 85% of patients with Alport syndrome (hereditary nephritis) have been estimated to have mutations in the X… 
Review
1996
Review
1996
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report… 
Review
1993
Review
1993
Alport syndrome: from bedside to genome to bedside.
Highly Cited
1992
Highly Cited
1992
Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.
Alport syndrome (AS) is an hereditary glomerulonephritis that is mainly inherited as a dominant X-linked trait. Structural… 
Highly Cited
1991
Highly Cited
1991
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
Highly Cited
1990
Highly Cited
1990
Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by… 
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