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Mouse Anti-PMM2 Recombinant Antibody (2A5) (CBMAB-P2233-YC)

Provided herein is a Mouse monoclonal antibody against Human Phosphomannomutase 2. The antibody can be used for immunoassay techniques, such as WB, IP, ELISA.
See all PMM2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
2A5
Antibody Isotype
IgG
Application
WB, IP, ELISA

Basic Information

Specificity
Human
Antibody Isotype
IgG
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.

Target

Full Name
phosphomannomutase 2
Introduction
PMM2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.
Entrez Gene ID
UniProt ID
Alternative Names
PMM 2; CDG1a; PMI1; CDG1; CDGS; PMI
Function
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
Biological Process
GDP-mannose biosynthetic processTAS:Reactome
Mannose metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Protein glycosylationManual Assertion Based On ExperimentTAS:ProtInc
Protein N-linked glycosylationManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytoplasm
Involvement in disease
Congenital disorder of glycosylation 1A (CDG1A):
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.
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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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