The antiserum was produced against synthesized peptide derived from human Collagen IV alpha5. AA range:21-70

COL4A5 Polyclonal Antibody detects endogenous levels of COL4A5 protein.

COL4A5

Collagen alpha-5 (IV) chain

COL4A5 ;
Collagen alpha-5 ;
IV ;
chain

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] ,

Disease: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 , but also of the tracheobronchial tree and the female genital tract. ,Domain:Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus , frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix) , and a short N-terminal triple-helical 7S domain. ,Function: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. ,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. ,PTM:Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these , located in the NC1 domain , are conserved in all known type IV collagens. ,similarity:Belongs to the type IV collagen family. ,similarity:Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain. ,subunit:There are six type IV collagen isoforms , alpha 1 (IV) -alpha 6 (IV) , each of which can form a triple helix structure with 2 other chains to generate type IV collagen network. ,

Secreted , extracellular space , extracellular matrix , basement membrane.

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