Human Collagen alpha-4 (4) chain, COL4A4 ELISA Kit | COL4A4 elisa kit
Human Collagen alpha-4 (4) chain, COL4A4 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
Uniprot Description
COL4A4: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. Defects in COL4A4 are a cause of Alport syndrome autosomal recessive (APSAR). 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. Defects in COL4A4 are a cause of benign familial hematuria (BFH); also known as thin basement membrane nephropathy. BFH is characterized by persistent hematuria, an electron microscopically detectable thin glomerular basement membrane (GBM) and an autosomal dominant mode of inheritance. Renal function remains normal. In children, differentiation between BFH and AS can be difficult, because both disorders are manifested by persistent hematuria and thin GBM at that age. Belongs to the type IV collagen family.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 2q35-q37
Cellular Component: endoplasmic reticulum lumen; collagen type IV; extracellular region; basal lamina
Molecular Function: extracellular matrix structural constituent
Biological Process: axon guidance; extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; glomerular basement membrane development
Disease: Alport Syndrome, Autosomal Recessive
Research Articles on COL4A4
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Product Notes
The Human COL4A4 col4a4 (Catalog #AAA1606010) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA1606010 ELISA Kit recognizes Human COL4A4. It is sometimes possible for the material contained within the vial of "Collagen alpha-4 (4) chain, COL4A4, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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