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Alport syndrome is the result of mutations in any of three type IV collagen (show COL4 Proteins) genes, COL4A3 (show COL4a3 Proteins), COL4A4, or COL4A5. Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. (Review)
Missense mutation in exon 28 of the COL4A5 gene is associated with focal segmental glomerulosclerosis.
We show that collagen IV (show COL4 Proteins) mutations, including COL4A5, frequently underlie FSGS (show ACTN4 Proteins) and should be considered, particularly with a positive family history. Targeted NGS improves diagnostic efficiency by investigating many candidate genes in parallel.
mutations in COL4A3 (show COL4a3 Proteins), COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
Synonymous COL4A5 substitution responsible for X-linked Alport syndrome.
Sanger sequencing of these regions identified a novel splicesite mutation in intron 9 (c.547-3C>A) of the COL4A5 gene. Subsequent cDNA analysis revealed that c.547- 3C>A led to skipping of exon 10, which resulted in an in-frame deletion of 21 amino acids from the a5 chain of type IV collagen (show COL4 Proteins). This is the first report of the novel c.547-3C>A splicing mutation in the collagen domain of COL4A5 gene.
Coinheritance of COL4A5 and MYO1E (show MYO1E Proteins) mutations accentuate the severity of kidney disease.
Case Report: subepidermal blistering disease with autoantibodies to multiple laminin subunits which developed autoantibodies to COL4A5 associated with membranous glomerulonephropathy.
New COL4A5 mutations among Portuguese patients with collagen IV (show COL4 Proteins)-related nephropathies were identified in unrelated individuals.
alpha5(IV), but not alpha1(IV), promotes lung cancer cell proliferation and tumor angiogenesis through non-integrin collagen receptor (show ITGA2 Proteins) DDR1 (show DDR1 Proteins)-mediated ERK (show EPHB2 Proteins) activation.
Findings indicate a role for collagen alpha-5(IV) chain (Col4a5) in the regulation of macrophage responses to mycobacterial infection and identify Col4a5 as a potential target for the host-directed anti-mycobacterial therapy.
In murine embryos, collagen IV (show COL4 Proteins) subunits alpha1(IV), alpha2(IV), alpha5(IV) and alpha6(IV) were detected in the basement membrane surrounding the lens vesicle, and they persisted in the capsule until adulthood.
In kidney, when expressed onto Col4a3 (show COL4a3 Proteins)(-/-) background, human alpha3(IV (show COL4a3 Proteins)) chain restored expression of and co-assembled with mouse alpha4 and alpha5(IV) chains at sites where human alpha3(IV (show COL4a3 Proteins)) was expressed. All three chains required for network assembly.
Alpha3(IV (show COL4a3 Proteins)), alpha4(IV), and alpha5(IV) chains form a complex, which is a heterotrimer, and a defect in complex formation might be one of the molecular mechanisms underlying the pathogenesis of Alport syndrome.
the proximal bifunctional promoter regulates the expression of the alpha5(IV) and alpha6(IV) genes in a cell-specific manner and demonstrates promoter plasticity in growth factor regulation of type IV collagen (show COL4 Proteins) genes in different tissues of the body.
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene.
collagen, type IV, alpha 5
, type IV collagen alpha 5-like
, type IV collagen alpha 5 chain
, collagen alpha-5(IV) chain-like
, collagen IV, alpha-5 polypeptide
, collagen alpha-5(IV) chain
, collagen of basement membrane, alpha-5 chain
, collagen type IV alpha5 chain
, procollagen type IV alpha 5
, procollagen, type IV, alpha 5
, collagen, type IV, alpha 5 (Alport syndrome)
, type IV collagen alpha 5