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Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits.
New COL4A3 mutations among Portuguese patients with collagen IV (show COL4 ELISA Kits)-related nephropathies were identified in 18 unrelated families.
The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations
Letter/Case Report: novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.
we identified seven families with associated mutations in COL4A3 and COL4A4 (show Col4a4 ELISA Kits) genes and four families with associated mutations in COL4A4 (show Col4a4 ELISA Kits) and COL4A5 (show COL4a5 ELISA Kits). We did not find kindreds with digenic inheritance attributable to mutations in COL4A3 and COL4A5 (show COL4a5 ELISA Kits)
Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response cascade.
We found that 7 out of 70 families (10%) with familial focal segmental glomerulosclerosis in our cohort have rare variants in COL4A3 and COL4A4 (show Col4a4 ELISA Kits).
COL4A3 mutations cause focal segmental glomerulosclerosis.
The expression of collagen type IV (show COL4 ELISA Kits) and its alpha chains (alpha1-6) was investigated in different endothelial cell culture systems in vitro qualitatively and quantitatively.
A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers
In family 2, a novel COL4A3 missense mutation c.G2290A (p.Gly997Glu) was identified in all affected family members, who had disease ranging from isolated microscopic hematuria to end stage renal disease.
Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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.
collagen IV, alpha-3 polypeptide
, collagen alpha-3(IV) chain