Phosphomannomutase 2 Proteine (PMM2)

The protein encoded by 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. Zusätzlich bieten wir Ihnen PMM2 Antikörper (59) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
PMM2 5373 O15305
PMM2 54128 Q9Z2M7
Ratte PMM2 PMM2 302915  
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Top PMM2 Proteine auf antikoerper-online.de

Showing 10 out of 17 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
HOST_Escherichia coli (E. coli) Human His tag 100 μg Anmelden zum Anzeigen 18 bis 20 Tage
450,00 €
Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 46 Days
5.173,33 €
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 46 Days
5.173,33 €
Details
HOST_Escherichia coli (E. coli) Human His tag 100 μg Anmelden zum Anzeigen 11 bis 15 Tage
303,81 €
Details
HOST_Escherichia coli (E. coli) Human His tag Validation with Western Blot 10 μg Anmelden zum Anzeigen 8 bis 11 Tage
438,90 €
Details
HOST_Escherichia coli (E. coli) Human His tag   50 μg Anmelden zum Anzeigen 8 bis 9 Tage
523,81 €
Details
HOST_Escherichia coli (E. coli) Human His tag   10 μg Anmelden zum Anzeigen 13 bis 15 Tage
285,71 €
Details
HOST_Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 7 bis 8 Tage
345,60 €
Details
HOST_HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 6 bis 8 Tage
748,00 €
Details
Hefe Rind (Kuh) His tag   1 mg Anmelden zum Anzeigen 58 bis 70 Tage
2.500,31 €
Details

PMM2 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , , ,
, ,
Mouse (Murine)

Am meisten referenzierte PMM2 Proteine

  1. Human PMM2 Protein expressed in Escherichia coli (E. coli) - ABIN667222 : Matthijs, Schollen, Pardon, Veiga-Da-Cunha, Jaeken, Cassiman, Van Schaftingen: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). in Nature genetics 1997 (PubMed)
    Zeige alle 2 Referenzen für 667222

  2. Human PMM2 Protein expressed in Escherichia coli (E. coli) - ABIN2006316 : Jaeken, Matthijs: Congenital disorders of glycosylation. in Annual review of genomics and human genetics 2001 (PubMed)

Weitere Proteine zu Phosphomannomutase 2 (PMM2) Interaktionspartnern

Zebrafish Phosphomannomutase 2 (PMM2) Interaktionspartner

  1. Morphant embryos had developmental abnormalities consistent with Congenital disorder of glycosylation resulting from mutations in pmm2, including craniofacial defects and impaired motility associated with altered motor neurogenesis.

Xenopus laevis Phosphomannomutase 2 (PMM2) Interaktionspartner

  1. The data show for the first time that a knockdown of phosphomannomutase 2 influences in vivo the non-canonical Wnt (zeige WNT2 Proteine) signalling during early embryogenesis.

Human Phosphomannomutase 2 (PMM2) Interaktionspartner

  1. This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 (zeige IL6ST PLURAL_@42467@) biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease.

  2. 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 (zeige PRKD1 Proteine) and provide insights into gene regulation and PMM2 pleiotropy

  3. 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

  4. A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy.

  5. Data indicate genome-wide significant association at multiple single nucleotide polymorphism (SNPs) near ATP binding cassette transporter 1 (ABCA1 (zeige ABCA1 Proteine)) at 9q31.1 and suggestive evidence of association in phosphomannomutase 2 (PMM2) at 16p13.2.

  6. We conclude that electroretinogram signs of on-pathway dysfunction can be detected in the early stages of PMM2-Congenital disorder of glycosylation.

  7. Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings.

  8. 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.

  9. A Japanese patient with congenital disorder of glycosylation type Ia had a novel nonsense mutation (R194X) in the PMM2 gene.

  10. enzymatic activity of PMM2 is upregulated by insulin (zeige INS Proteine) treatment and that Sgk1 (zeige SGK1 Proteine) completely inhibits PMM2 activity both in the absence and in the presence of insulin (zeige INS Proteine) stimulation.

Mouse (Murine) Phosphomannomutase 2 (PMM2) Interaktionspartner

  1. This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 (zeige LRPPRC PLURAL_@42467@) biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease.

  2. Pmm2 activity in jejunum increased during the early stages of life, and it decreased at 1 month old, as does the amount of mannose incorporated into glycoproteins, whereas in the ileum, they were not affected by age.

  3. Pmm2 immunoreactivity seen in prenatal brain until postnatal and adult stage and restricted in neuronal cell bodies.

  4. These results indicate that Pmm2 is essential for early development of mice.

PMM2 Protein Überblick

Protein Überblick

The protein encoded by this gene 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.

Genbezeichner und Symbole assoziert mit Phosphomannomutase 2 Proteine (PMM2)

  • phosphomannomutase 2 (pmm2)
  • phosphomannomutase 2 (PMM2)
  • phosphomannomutase 2 (PTRG_02815)
  • phosphomannomutase 2 (Tsp_00480)
  • phosphomannomutase 2 (Pmm2)
  • AI585868 Protein
  • C86848 Protein
  • cb626 Protein
  • CDG1 Protein
  • CDG1a Protein
  • CDGS Protein
  • MGC82869 Protein
  • PMI Protein
  • PMI1 Protein
  • PMM 2 Protein
  • pmm2 Protein
  • zgc:56149 Protein

Bezeichner auf Proteinebene für Phosphomannomutase 2 Proteine (PMM2)

phosphomannomutase 2 , phosphomannose isomerase 1 , PMM 2

GENE ID SPEZIES
368229 Danio rerio
427679 Gallus gallus
444370 Xenopus laevis
6341038 Pyrenophora tritici-repentis Pt-1C-BFP
10901767 Trichinella spiralis
100196649 Salmo salar
100216238 Xenopus (Silurana) tropicalis
100528607 Ictalurus punctatus
5373 Homo sapiens
54128 Mus musculus
302915 Rattus norvegicus
510978 Bos taurus
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