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Mouse Anti-POMT2 Recombinant Antibody (1D9) (CBMAB-P2397-YC)

Provided herein is a Mouse monoclonal antibody against Human Protein O-Mannosyltransferase 2. The antibody can be used for immunoassay techniques, such as ELISA, WB.
See all POMT2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
1D9
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Immunogen
POMT2 (NP_037514, 483-580 aa) partial recombinant protein with GST tag. Immunogen sequence: CVLGSSGKVL PKWGWEQLEV TCTPYLKETL NSIWNVEDHI NPKLPNISLD VLQPSFPEIL LESHMVMIRG NSGLKPKDNE FTSKPWHWPI NYQGLRFS
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
aa 483-580

Target

Full Name
protein-O-mannosyltransferase 2
Introduction
POMT2 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).
Entrez Gene ID
29954
UniProt ID
Q9UKY4
Alternative Names
MDDGB2; MDDGC2; LGMD2N; MDDGA2
Function
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 (PubMed:14699049, PubMed:28512129).
Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).
Biological Process
Positive regulation of protein O-linked glycosylationIEA:Ensembl
Protein O-linked mannosylationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Endoplasmic reticulum membrane
Involvement in disease
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, 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.
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities.
Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2):
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.
PTM
N-glycosylated.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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