PMM2 Antibody (2A5): sc-517179

PMM2 Antibody (2A5) is a mouse monoclonal IgG2b kappa light chain antibody that detects PMM2 protein of human origin by western blotting (WB), immunoprecipitation (IP), and enzyme-linked immunosorbent assay (ELISA). Anti-PMM2 antibody (2A5) is available as a non-conjugated format. PMM2, also known as phosphomannomutase 2, is a crucial enzyme consisting of 246 amino acids that plays a vital role in GDP-mannose synthesis, a key sugar nucleotide involved in glycoprotein biosynthesis. This process is essential for proper cellular mechanisms, including protein glycosylation, which affects protein folding, stability, and cell signaling. Mutations in PMM2 can lead to carbohydrate-deficient glycoprotein syndrome type I, an autosomal recessive disorder that presents with severe neurological impairments, including encephalopathy, psychomotor retardation, and peripheral neuropathy, as well as other systemic manifestations such as abnormal fat distribution and hypogonadism. PMM2 is located on human chromosome 16p13.2, highlighting its significance in genetic studies related to metabolic disorders.

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PMM2 Antibody (2A5) References:

1. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.  |  Kondo, I., et al. 1999. Clin Genet. 55: 50-4. PMID: 10066032
2. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.  |  Vuillaumier-Barrot, S., et al. 1999. Hum Mutat. 14: 543-4. PMID: 10571956
3. Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.  |  Kjaergaard, S., et al. 1999. Eur J Hum Genet. 7: 884-8. PMID: 10602363
4. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).  |  Matthijs, G., et al. 2000. Hum Mutat. 16: 386-94. PMID: 11058895
5. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.  |  Bjursell, C., et al. 2000. Hum Mutat. 16: 395-400. PMID: 11058896
6. A new insight into PMM2 mutations in the French population.  |  Le Bizec, C., et al. 2005. Hum Mutat. 25: 504-5. PMID: 15844218
7. Renal involvement in PMM2-CDG, a mini-review.  |  Altassan, R., et al. 2018. Mol Genet Metab. 123: 292-296. PMID: 29229467
8. New and potential strategies for the treatment of PMM2-CDG.  |  Gámez, A., et al. 2020. Biochim Biophys Acta Gen Subj. 1864: 129686. PMID: 32712172
9. Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.  |  Radenkovic, S., et al. 2024. Cell Rep. 43: 113883. PMID: 38430517
10. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).  |  Matthijs, G., et al. 1997. Nat Genet. 16: 88-92. PMID: 9140401
11. Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.  |  Schollen, E., et al. 1998. Hum Mol Genet. 7: 157-64. PMID: 9425221
12. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.  |  Kjaergaard, S., et al. 1998. Eur J Hum Genet. 6: 331-6. PMID: 9781039

Monoclonal antibodies for mammalian and non-mammalian protein targets represent essentially all targets covered by polyclonal antibodies. Over 8,300 of our antibodies are offered as ImmunoCruz^® conjugates which eliminates the need for a secondary antibody.

Santa Cruz Biotechnology antibodies have over 360,000 research citations. Anti-PMM2 Antibody (2A5) has 0 citations in a variety of scientific publications.

Primary antibodies like Anti-PMM2 Antibody (2A5) for mammalian target proteins are recommended for the detection of a range of mammalian species, primarily of mouse, rat and human species. Many mammalian antibodies are also ideal for veterinary research and reactive with ovine, porcine, caprine, feline, canine, bovine and equine protein targets. Santa Cruz Biotechnology primary monoclonal antibodies are suitable for laboratory research applications and are not intended for diagnostic or therapeutic use.

PMM2 Antibody (2A5) Specifications

Alternate Product Name: PMM2

Product Clone Name: 2A5

Classification: Primary Antibody

Clonality: Monoclonal Antibody

Antibody Isotype: IgG_2b kappa light chain

Amino Acids: 1-246

Epitope Target: PMM2

Epitope Species: human

Product Reactivity/Detection: PMM2

Species Reactivity/Detection: human

Additional Mammalian Reactivity: N/A

Additional Non-Mammalian Reactivity: N/A

Applications: WB, IP, ELISA

Vialing Information: Each vial contains 100 µg IgG_2b kappa light chain in 1.0 ml of PBS with < 0.1% sodium azide and 0.1% gelatin

Research Citations: 0 citations in various scientific publications

Available Conjugates/Forms for PMM2 Antibody (2A5): N/A