PMM2 Antibody

Code CSB-PA018238ESR2HU
Size US$166
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  • Western blot
    All lanes: PMM2 antibody at 3.8µg/ml
    Lane 1: A549 whole cell lysate
    Lane 2: HepG2 whole cell lysate
    Lane 3: MCF-7 whole cell lysate
    Lane 4: K562 whole cell lysate
    Lane 5: Hela whole cell lysate
    Lane 6: 293T whole cell lysate
    Secondary
    Goat polyclonal to rabbit IgG at 1/10000 dilution
    Predicted band size: 29, 14 kDa
    Observed band size: 29 kDa

  • Immunohistochemistry of paraffin-embedded human thyroid tissue using CSB-PA018238ESR2HU at dilution of 1:100

  • Immunohistochemistry of paraffin-embedded human gastric cancer using CSB-PA018238ESR2HU at dilution of 1:100

  • Immunoprecipitating PMM2 in Hela whole cell lysate
    Lane 1: Rabbit control IgG instead of (1µg) instead of CSB-PA018238ESR2HU in Hela whole cell lysate. For western blotting, a HRP-conjugated anti-rabbit IgG, specific to the non-reduced form of IgG was used as the Secondary antibody (1/50000)
    Lane 2: CSB-PA018238ESR2HU (4µg) + Hela whole cell lysate (500µg)
    Lane 3: Hela whole cell lysate (20µg)

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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) PMM2 Polyclonal antibody
Uniprot No.
Target Names
PMM2
Alternative Names
AI585868 antibody; BOS_22465 antibody; C86848 antibody; CDG 1 antibody; CDG1 antibody; CDG1a antibody; CDGS antibody; MGC127449 antibody; Phosphomannomutase 2 antibody; PMM 2 antibody; Pmm2 antibody; PMM2_HUMAN antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Phosphomannomutase 2 protein (1-246AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Non-conjugated
Clonality
Polyclonal
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Form
Liquid
Tested Applications
ELISA, WB, IHC, IP
Recommended Dilution
Application Recommended Dilution
WB 1:1000-1:5000
IHC 1:20-1:200
IP 1:200-1:2000
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Description

CUSABIO uses a peptide corresponding to amino acid residues 1-246 of human PMM2 protein as the immunogen to immunize the rabbit to yield the anti-PMM2 antibody. This PMM2 polyclonal antibody is only reactive with human PMM2 protein, a cytosolic enzyme responsible for the conversion of mannose 6-phosphate to mannose 1-phosphate. A complete loss of PMM2 can lead to lethality in yeast, mice, and presumably humans. It exists as an unconjugated IgG isoform. Its purity is 95%+ using antigen affinity purified. And it has been validated to recognize PMM2 protein in ELISA, WB, IHC, and IP applications.

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Target Background

Function
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
Gene References into Functions
  1. The biochemical analysis of mutants does not allow a precise genotypephenotype correlation for PMM2-Type I disorders of glycosylation. PMM2 is very tolerant to missense and loss of function mutations, suggesting that a partial deficiency of activity might be beneficial under certain circumstances. PMID: 30061496
  2. clinical variables to detect risk factors for Stroke-like episodes in a series of 43 phosphomannomutase deficiency patients. PMID: 29470411
  3. PMM2-CDG clinical phenotype is heterogeneous in terms of clinical course, with no clear division between neurological and visceral presentations. PMID: 28954837
  4. Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. We report patients with p.Val231Met/p.Arg239Trp and p.Ile120Thr/p.Gly228Cys genotypes which may cause milder variants of PMM2-CDG PMID: 28425223
  5. This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease. PMID: 27053713
  6. We propose that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. Our findings extend the spectrum of genetic causes for both HI and PKD and provide insights into gene regulation and PMM2 pleiotropy PMID: 28373276
  7. work describes the functional analysis of 9 PMM2 mutant proteins frequently found in congenital disorder of glycosylation type Ia(PMM2-CDG)patients; results suggest that some loss-of-function mutations detected in PMM2-CDG patients could be destabilizing PMID: 26014514
  8. the activity of phosphomannomutase2 R141H/F119L heterodimers in vitro, which reproduces the protein found in patients, has the same activity of wild type/R141H, which reproduces the protein found in healthy carriers. PMID: 26488408
  9. A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy. PMID: 25355454
  10. conformational response to ligand binding in phosphomannomutase2 PMID: 25324542
  11. Data indicate genome-wide significant association at multiple single nucleotide polymorphism (SNPs) near ATP binding cassette transporter 1 (ABCA1) at 9q31.1 and suggestive evidence of association in phosphomannomutase 2 (PMM2) at 16p13.2. PMID: 25173107
  12. We conclude that electroretinogram signs of on-pathway dysfunction can be detected in the early stages of PMM2-Congenital disorder of glycosylation. PMID: 23430200
  13. Two young sisters are compound heterozygous for mutations p.Leu32Arg and p.Arg141His, while two paternal great-aunts are compound heterozygosity for p.Leu32Arg and p.Thr237Met, with congenital disorder of glycosylation. PMID: 23988505
  14. Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings. PMID: 22374380
  15. Identification of exclusively catalytic protein change, catalytic protein changes affecting protein stability, two protein changes disrupting the dimer interface and several misfolding changes . PMID: 21541725
  16. When non-immune hydrops fetalis remains unexplained despite exhaustive obstetrical screening, analysis of PMM activity in the parents' leucocytes is possible and might be performed easily during pregnancy PMID: 20638314
  17. The presence of this deletion-insertion mutation at cDNA position 565 suggests that this site in the PMM2 gene may be a hotspot for chromosomal breakage. PMID: 11891694
  18. Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant. a new, previously undescribed, combination of mutations of the PMM gene locus on chromosome 16p13 (647,691). PMID: 11935250
  19. A Japanese patient with congenital disorder of glycosylation type Ia had a novel nonsense mutation (R194X) in the PMM2 gene. PMID: 13129599
  20. enzymatic activity of PMM2 is upregulated by insulin treatment and that Sgk1 completely inhibits PMM2 activity both in the absence and in the presence of insulin stimulation. PMID: 15342340
  21. 11 novel mutations in the PMM2 gene are described as associated with Congenital disorder of Glycosylation type Ia. PMID: 15844218
  22. Based on SNP and STR genotypic analysis, we ascertained an association between the R141H substitution and a particular haplotype, suggesting a common origin for all the mutated chromosomes. PMID: 17166182
  23. We describe the characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. PMID: 17307006
  24. three siblings of congenital disorder of glycosylation type 1a are compound heterozygotes for R141H and L32R mutations in the PMM2 gene. PMID: 17451957
  25. Two CDG-Ia patients,who presented with ataxia and cerebellar hypoplasia and with a normal or only slightly abnormal transferrin but the activity of the corresponding enzyme phosphomannomutase was clearly deficient in leucocytes and fibroblasts. PMID: 17694350
  26. Val231Met and Arg148Met heterozygosity can present as primary skeletal dysplasia with congenital glycosylation type Ia disorder. PMID: 18203160
  27. This work reports the study of two new nucleotide changes (c.256-1G>C and c.640-9T>G) identified in the PMM2 gene in congenital disorders of glycosylation type 1a patients, and of a previously described deep intronic nucleotide change in intron 7. PMID: 19235233

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Involvement in disease
Congenital disorder of glycosylation 1A (CDG1A)
Subcellular Location
Cytoplasm.
Protein Families
Eukaryotic PMM family
Database Links

HGNC: 9115

OMIM: 212065

KEGG: hsa:5373

STRING: 9606.ENSP00000268261

UniGene: Hs.625732

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