Anti-B4GALT7 monoclonal antibody (CABT-26996MH)

Specifications


Host Species
Mouse
Antibody Isotype
IgG
Clone
AB68323
Species Reactivity
Human
Immunogen
Full length B4GALT7 protein (Human)
Conjugate
Unconjugated

Applications


Application Notes
WB: 1/500 - 1/1000;
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
B4GALT7; xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I); beta-1,4-galactosyltransferase 7; beta4Gal T7; XGALT 1; B4GAL T7
Entrez Gene ID
UniProt ID

Product Background


Gene summary
B4GALT7 (Beta-1,4-Galactosyltransferase 7) is a Protein Coding gene. Diseases associated with B4GALT7 include ehlers-danlos syndrome, progeroid type, 1 and ehlers-danlos syndrome progeroid type. Among its related pathways are Metabolism and heparan sulfate biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT2. This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome.
Pathway
Glycosaminoglycan biosynthesis - chondroitin sulfate, organism-specific biosystem; Glycosaminoglycan biosynthesis - chondroitin sulfate, conserved biosystem; Glycosaminoglycan biosynthesis - heparan sulfate, organism-specific biosystem; Glycosaminoglycan biosynthesis - heparan sulfate, conserved biosystem; Glycosaminoglycan biosynthesis, linkage tetrasaccharide, organism-specific biosystem; Glycosaminoglycan biosynthesis, linkage tetrasaccharide, conserved biosystem; Metabolic pathways, organism.

Citations


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We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More

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References


Rahuel-Clermont, S; Daligault, F; et al. Biochemical and thermodynamic characterization of mutated beta 1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers-Danlos syndrome. BIOCHEMICAL JOURNAL 432:303-311(2010).
Shimojima, K; Okanishi, T; et al. Marfanoid Hypermobility Caused by an 862 kb Deletion of Xq22.3 in a Patient With Sotos Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A:2293-2297(2011).

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