Phosphomannomutase 2 (PMM2) ELISA Kits

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 (61) und PMM2 Proteine (17) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Human PMM2 PMM2 5373 O15305
Anti-Maus PMM2 PMM2 54128 Q9Z2M7
Anti-Ratte PMM2 PMM2 302915  
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Weitere ELISA Kits für PMM2 Interaktionspartner

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 ELISA Kits) 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 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 ELISA Kits) 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 ELISA Kits)) 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 ELISA Kits) treatment and that Sgk1 (zeige SGK1 ELISA Kits) completely inhibits PMM2 activity both in the absence and in the presence of insulin (zeige INS ELISA Kits) stimulation.

Mouse (Murine) Phosphomannomutase 2 (PMM2) Interaktionspartner

  1. 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.

  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 Antigen-Profil

Beschreibung des Gens

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 (PMM2) ELISA Kits

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

Bezeichner auf Proteinebene für Phosphomannomutase 2 (PMM2) ELISA Kits

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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