Product Information
Molecular Weight161813Da
Protein NameCollagen alpha-3(IV) chain
Human Gene Id1285
Human Swiss Prot NoQ01955
Mouse Swiss Prot NoQ9QZS0
SpecificityCOL4A3 Polyclonal Antibody detects endogenous levels of COL4A3 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameCOL4A3; Collagen alpha-3(IV) chain; Goodpasture antigen
Functionalternative products:The majority of isoforms differ in the C-terminal part of the NC1 domain,disease:Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney.,disease:Defects in COL4A3 are a cause of Alport syndrome autosomal recessive (APSAR) [MIM:203780]. APSAR is characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.,disease:Defects in COL4A3 are a cause of benign familial hematuria (BFH) [MIM:141200]; also known as thin basement membrane nephropathy. BFH is characterized by persistent hematuria, an electron microscopically detectable thin glo
Subcellular Locationextracellular region,proteinaceous extracellular matrix,collagen trimer,collagen type IV trimer,basement membrane,endoplasmic reticulum,endoplasmic reticulum lumen,intracellular membrane-bounded organelle,
ExpressionKidney,
Backgroundcollagen type IV alpha 3 chain(COL4A3) Homo sapiens 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 r