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POMT2 Antibody (PACO11368)

SKU:
PACO11368
Product Type:
Antibody
Reactivity:
Human
Mouse
Rat
Host Species:
Rabbit
Isotype:
IgG
Applications:
ELISA
IHC
Antibody Type:
Polyclonal Antibody
Conjugation:
Unconjugated
€459
Frequently bought together:

Description

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POMT2 Antibody (PACO11368)

The POMT2 Polyclonal Antibody (PACO11368) is a valuable tool for researchers studying POMT2, a protein involved in the glycosylation of alpha-dystroglycan and implicated in various forms of muscular dystrophy. This antibody, generated in rabbits, exhibits high reactivity towards human samples and is validated for use in Western blot applications. By specifically binding to the POMT2 protein, this antibody enables accurate detection and analysis in a range of cell types, making it ideal for investigations in molecular biology and neuromuscular research.

POMT2 plays a crucial role in the glycosylation process that is essential for the functional integrity of alpha-dystroglycan, a key component of the dystrophin glycoprotein complex. Mutations in the POMT2 gene have been linked to various types of muscular dystrophy, highlighting the importance of understanding its function and regulation. By studying POMT2 with the help of this antibody, researchers can gain valuable insights into the mechanisms underlying these muscle disorders and potentially identify new therapeutic targets for their treatment.

Antibody Name:POMT2 Antibody (PACO11368)
Antibody SKU:PACO11368
Size:50ul
Host Species:Rabbit
Tested Applications:ELISA, IHC
Recommended Dilutions:
Species Reactivity:Human, Mouse, Rat
Immunogen:Human POMT2
Form:Liquid
Storage Buffer:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Purification Method:Antigen Affinity Purified
Clonality:Polyclonal
Isotype:IgG
Conjugate:Non-conjugated
Synonyms:protein-O-mannosyltransferase 2;POMT2;DKFZp686G10254;FLJ22309 ;
UniProt Protein Function: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: Membrane protein, integral; Glycan Metabolism - O-mannosyl glycan biosynthesis; Transferase; EC 2.4.1.109; Membrane protein, multi-pass; Endoplasmic reticulumChromosomal Location of Human Ortholog: 14q24Cellular Component: endoplasmic reticulum membrane; integral to membraneMolecular Function: dolichyl-phosphate-mannose-protein mannosyltransferase activity; metal ion bindingBiological Process: cell wall mannoprotein biosynthetic process; multicellular organismal development; protein amino acid O-linked glycosylation; protein amino acid O-linked mannosylationDisease: 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
UniProt Protein Details:
NCBI Summary: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 Code:Q9UKY4
NCBI GenInfo Identifier:32171723
NCBI Gene ID:29954
NCBI Accession:Q9UKY4.2
UniProt Secondary Accession:Q9UKY4,Q9NSG6, Q9P1W0, Q9P1W2
UniProt Related Accession:Q9UKY4
Molecular Weight:8,899 Da
NCBI Full Name:Protein O-mannosyl-transferase 2
NCBI 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
UniProt Protein Name:Protein O-mannosyl-transferase 2
UniProt Synonym Protein Names:Dolichyl-phosphate-mannose--protein mannosyltransferase 2
Protein Family:Protein O-mannosyl-transferase
UniProt Gene Name:POMT2  
UniProt Entry Name:POMT2_HUMAN

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