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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

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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… 
2010
2010
A family with X-linked benign familial hematuria
Gene mutations in COL4A5 located on Xq22 are believed to cause X-linked Alport syndrome, whereas mutations in COL4A3 and COL4A4… 
2006
2006
Resolution of proteinuria in a patient with X-linked Alport syndrome treated with cyclosporine
We report a 9-year-old Icelandic male with Alport syndrome and nephrotic-range proteinuria who responded well to cyclosporine… 
2005
2005
A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: genetic analysis of COL4A5 to COL4A6 and immunostaining for type IV collagen subtypes.
BACKGROUND In some families, X-linked Alport syndrome (AS) is associated with diffuse leiomyomatosis. We describe clinical… 
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… 
1995
1995
Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.
Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the… 
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… 
1994
1994
Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an alport patient deletes the NC1 domain
PCR conditions were optimized to amplify the COL4A5 cDNA from lymphoblasts and kidney tissue. Sequencing of the COL4A5 mRNA… 
1994
1994
A novel frameshift deletion in type IV collagen α5 gene in a juvenile‐type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5
Institute of Biolog~ai Sciences and Genetics, University of Verona School of Medicine, Unioersity Hospital Polyclinic, 371 34… 
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