Anti-C1GALT1C1 monoclonal antibody (DCABH-14775) Made to order

Rabbit anti-Human C1GALT1C1 monoclonal antibody for WB, ELISA

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Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human C1GALT1C1 is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
C1GALT1C1; C1GALT1-specific chaperone 1; C1GALT2; COSMC; C1Gal-T2; core 1 beta3-Gal-T2
Entrez Gene ID
UniProt ID

Product Background


Gene summary
C1GALT1C1 (C1GALT1 Specific Chaperone 1) is a Protein Coding gene. Diseases associated with C1GALT1C1 include tn polyagglutination syndrome, somatic and wound botulism. Among its related pathways are Metabolism and O-linked glycosylation. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B3GLCT. This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified.
Antigen Description
Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1). Tn polyagglutination syndrome (TNPS) [MIM:300622]: A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. Note=The disease is caused by mutations affecting the gene represented in this entry. The function about C1GALT1C1 antigen include polypeptide N-acetylgalactosaminyltransferase activity.
Pathway
Metabolic pathways, organism-specific biosystem; Metabolism of proteins, organism-specific biosystem; Mucin type O-Glycan biosynthesis, organism-specific biosystem; Mucin type O-Glycan biosynthesis, conserved biosystem; O-glycan biosynthesis, mucin type c.

Citations


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References


Li, GS; Zhang, H; et al. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. KIDNEY INTERNATIONAL 71:448-453(2007).
Li, GS; Nie, GJ; et al. Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?. BMC MEDICAL GENETICS 10:-(2009).

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