catalog number :
MBS425045
products full name :
COL4A6 Immunizing Peptide
products short name :
COL4A6
products name syn :
COL4A6; collagen, type IV, alpha 6; MGC88184; OTTHUMP00000023834; OTTHUMP00000023835; collagen IV, alpha-6 polypeptide; collagen alpha 6 type IV; collagen of basement membrane, alpha-6; dJ889N15.4 (Collagen Alpha 6(IV)); type IV alpha 6 collagen
other names :
collagen alpha-6(IV) chain isoform A; Collagen alpha-6(IV) chain; collagen alpha-6(IV) chain; collagen type IV alpha 6
products gene name :
COL4A6
other gene names :
COL4A6; COL4A6; DFNX6; DELXq22.3; CXDELq22.3
uniprot entry name :
CO4A6_HUMAN
sequence :
C-PSPEFETETLHNKES
form :
100ug of dried peptide
storage stability :
Shipped at ambient temperature, store at -20 degree C
ncbi acc num :
NP_001838.2
ncbi gb acc num :
NM_001847.3
ncbi mol weight :
163,629 Da
ncbi pathways :
AGE-RAGE Signaling Pathway In Diabetic Complications (1319988); AGE-RAGE Signaling Pathway In Diabetic Complications (1319775); Amoebiasis Pathway (167324); Amoebiasis Pathway (167191); Assembly Of Collagen Fibrils And Other Multimeric Structures Pathway (1270247); Collagen Biosynthesis And Modifying Enzymes Pathway (1270246); Collagen Formation Pathway (1270245); ECM-receptor Interaction Pathway (83068); ECM-receptor Interaction Pathway (479); Extracellular Matrix Organization Pathway (1270244)
ncbi summary :
This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
uniprot summary :
COL4A6: 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. Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS). Belongs to the type IV collagen family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Secreted, signal peptide; Extracellular matrix; Secreted. Chromosomal Location of Human Ortholog: Xq22. Cellular Component: collagen type IV; endoplasmic reticulum lumen; extracellular region. Molecular Function: extracellular matrix structural constituent. Biological Process: cell adhesion; collagen catabolic process; extracellular matrix organization and biogenesis. Disease: Deafness, X-linked 6