Rabbit Anti-C1GALT1C1 antibody

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HSPC067; 3-galactosyltransferase 2; Beta 1,3 galactosyltransferase 2; Beta1,3 galactosyltransferase 2; C1Gal T2; C1Gal-T2; C1GALT1 specific chaperone 1; C1GALT1-specific chaperone 1; C1galt1c1; C1GalT2; C1GLC_HUMAN; C38H2 L1; C38H2 like protein 1; C38H2-L

Cat:

SL2761R

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Pig,Cow,Horse,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human C1GALT1C1:181-280/318

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

WB=1:500-2000ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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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. [provided by RefSeq, Dec 2009]

Function:
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).

Subunit:
Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.

Subcellular Location:
Membrane; Single-pass type II membrane protein (Potential).

Tissue Specificity:
Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.

DISEASE:
Defects in C1GALT1C1 are the cause of Tn syndrome (TNSYN) [MIM:300622]. Tn syndrome is a rare autoimmune disease caused by somatic mutation in the C1GALT1C1 gene in which subpopulations of blood cells of all lineages carry an incompletely glycosylated membrane glycoprotein, i.e. the Tn antigen. Since leukocytes and platelets are affected as well as red cells, anemia, leukopenia and thrombocytopenia are features. Tn-polyagglutinability is sometimes associated with leukemia or is a preleukemic state.

Similarity:
Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.

SWISS:
Q96EU7

Gene ID:
29071

Database links:

Entrez Gene: 29071 Human

Omim: 300611 Human

SwissProt: Q96EU7 Human

Unigene: 643920 Human

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