Rabbit anti-Human POMT2 Polyclonal Antibody | anti-POMT2 antibody

POMT2, CT (POMT2, Protein O-mannosyl-transferase 2, Dolichyl-phosphate-mannose-protein mannosyltransferase 2) (FITC)

Cat. Num. AAA6335854

• Gene Names: POMT2; LGMD2N; MDDGA2; MDDGB2; MDDGC2
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: POMT2; Polyclonal Antibody; CT (POMT2; Protein O-mannosyl-transferase 2; Dolichyl-phosphate-mannose-protein mannosyltransferase 2) (FITC); Dolichyl-phosphate-mannose--protein mannosyltransferase 2; anti-POMT2 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Fluorescein Isothiocyanate (FITC).

• Applicable Applications for anti-POMT2 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: POMT2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 539-567 amino acids from the C-terminal region of human POMT2.
• Conjugate: FITC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: FITC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(POMT2 Antibody (C-term) western blot analysis in MDA-MB453 cell line lysates (35ug/lane).This demonstrates the POMT2 antibody detected the POMT2 protein (arrow).)

Related Product Information for anti-POMT2 antibody

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).

Product Categories/Family for anti-POMT2 antibody

Antibodies; Enzymes;  Transferase

References

Manya, H., et al. J. Biochem. 147(3):337-344(2010). Yanagisawa, A., et al. Eur J Med Genet 52(4):201-206(2009). Murakami, T., et al. Brain Dev. 31(6):465-468(2009). Mercuri, E., et al. Neurology 72(21):1802-1809(2009). Messina, S., et al. Neuromuscul. Disord. 18(7):565-571(2008).

NCBI and Uniprot Product Information

• NCBI GI #: 32455271
• NCBI GeneID: 29954
• NCBI Accession #: NP_037514.2
• NCBI GenBank Nucleotide #: NM_013382.5
• UniProt Accession #: Q9UKY4; Q9NSG6; Q9P1W0; Q9P1W2
• Molecular Weight: 84,214 Da
• NCBI Official Full Name: protein O-mannosyl-transferase 2
• NCBI Official Synonym Full Names: protein-O-mannosyltransferase 2
• NCBI Official Symbol: POMT2
• NCBI Official Synonym Symbols: LGMD2N; MDDGA2; MDDGB2; MDDGC2
• NCBI Protein Information: protein O-mannosyl-transferase 2; dolichyl-phosphate-mannose--protein mannosyltransferase 2
• UniProt Protein Name: Protein O-mannosyl-transferase 2
• Protein Family: Protein O-mannosyl-transferase
• UniProt Gene Name: POMT2
• UniProt Entry Name: POMT2_HUMAN

NCBI Description

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]

Uniprot Description

POMT2: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A2 (MDDGA2); also called Walker-Warburg syndrome or muscle-eye-brain disease POMT2-related. MDDGA2 is a autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B2 (MDDGB2); also called muscular dystrophy congenital POMT2-related. MDDGB2 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C2 (MDDGC2); also called limb-girdle muscular dystrophy type 2N (LGMD2N) or muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related (MDGD2C). MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. Belongs to the glycosyltransferase 39 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.109; Glycan Metabolism - O-mannosyl glycan biosynthesis; Transferase; Membrane protein, integral; Endoplasmic reticulum; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 14q24

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: dolichyl-phosphate-mannose-protein mannosyltransferase activity; metal ion binding

Biological Process: cell wall mannoprotein biosynthetic process; multicellular organismal development; protein amino acid O-linked glycosylation; protein amino acid O-linked mannosylation

Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 2; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 2; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 2