COL4A3 Break Apart FISH Probe

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. [provided by RefSeq, Jun 2010]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
COL4A3BA-20-REGO 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-REGR 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-ORGR 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-GOGR 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-GRRE 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-GROR 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-GRGO 20 (40 μL) 200 μL color color Request Pricing
COL4A3BA-20-AQOR 20 (40 μL) 200 μL color color Request Pricing

Gene Summary

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. [provided by RefSeq, Jun 2010]

Gene Details

Gene Symbol : COL4A3

Gene Name : Collagen type IV alpha 3 chain

Chromosome : CHR 2: 227,164,564-227,314,791

Locus : 2q36.3

Alt. Genes : ATP6AP2

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