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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.
2019
2019
Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
Alport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and… 
2014
2014
A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to… 
2008
2008
Se-methylselenocysteine alters collagen gene and protein expression in human prostate cells.
Highly Cited
2006
Highly Cited
2006
Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor‐specific translocationt(X;6)(q13‐14;q22)
Subungual exostosis is a benign bone‐ and cartilage‐producing tumor occurring in the hands and feet of children and young adults… 
Highly Cited
2003
Highly Cited
2003
Genetic cause of X-linked Alport syndrome in a family of domestic dogs
Alport syndrome is a hereditary disease of type IV (basement membrane) collagens that occurs spontaneously in humans and dogs. In… 
2000
2000
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients
Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the X‐chromosomal gene (COL4A5) encoding the… 
1995
1995
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X… 
1994
1994
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
A variety of mutations have been identified in the X-linked type IV collagen alpha 5 chain (COL4A5) gene in patients with Alport… 
1994
1994
Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis
Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and… 
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.
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