Product Information
Molecular Weight161044Da
Protein NameCollagen alpha-5(IV) chain
Human Gene Id1287
Human Swiss Prot NoP29400
SpecificityCOL4A5 Polyclonal Antibody detects endogenous levels of COL4A5 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 NameCOL4A5; Collagen alpha-5(IV) chain
Observed Band(KD)160
Functiondisease:Defects in COL4A5 are the cause of Alport syndrome X-linked (APSX) [MIM:301050]. APSX is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.,disease:Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are the cause of diffuse leiomyomatosis with Alport syndrome (DL-ATS) [MIM:308940]; also known as esophageal and vulval leiomyomatosis with nephropathy or Alport syndrome and diffuse leiomyomatosis (ATS-DL). DL-ATS is the combination of AS and diffuse leiomyomatosis (DL). DL is a tumorous process involving smooth muscle cells, mostly of the esophagus,
Subcellular Locationextracellular region,proteinaceous extracellular matrix,collagen trimer,collagen type IV trimer,basal lamina,endoplasmic reticulum lumen,neuromuscular junction,
ExpressionBrain,Kidney,Placenta,
Backgroundcollagen type IV alpha 5 chain(COL4A5) Homo sapiens 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. [provided by RefSeq, Aug 2010],