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Phosphomannomutase 2 (PMM2)

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CDG1; CDG1a; CDGS

Phosphomannomutase 2 (PMM2)
CCC F749
HGNC 9115
MGI 1859214
PubMed 20301289
RGD 1309366
UniProt O15305
Wiki PMM2
Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway manifest as carbohydrate-deficient glycoprotein syndrome type I. By database searching for sequences similar to that of PMM1, Matthijs et al. (1997) identified identified and subsequently cloned a PMM2 cDNA. The deduced 246-amino acid PMM2 protein shares 66% and 57% sequence identity with PMM1 and yeast phosphomannomutase, respectively. Bjursell et al. (1998) achieved refined mapping of the PMM2 gene by analysis of radiation hybrids.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phosphomannomutase 2 (PMM2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phosphomannomutase 2 (PMM2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phosphomannomutase 2 (PMM2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phosphomannomutase 2 (PMM2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phosphomannomutase 2 (PMM2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phosphomannomutase 2 (PMM2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phosphomannomutase 2 (PMM2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phosphomannomutase 2 (PMM2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phosphomannomutase 2 (PMM2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phosphomannomutase 2 (PMM2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Phosphomannomutase 2 (PMM2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Phosphomannomutase 2 (PMM2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Phosphomannomutase 2 (PMM2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Phosphomannomutase 2 (PMM2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Phosphomannomutase 2 (PMM2) ELISA Kit Customized Service Offer
  1. "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)."Nat. Genet. 16:88-92(1997) [PubMed] [Europe PMC] [Abstract]
  2. ErratumNat. Genet. 16:316-316(1997)
  3. "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."Hum. Mol. Genet. 7:157-164(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a."J. Biol. Chem. 281:14918-14926(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  10. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  11. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  12. "Ensemble refinement of protein crystal structures: validation and application."Structure 15:1040-1052(2007) [PubMed] [Europe PMC] [Abstract]
  13. "X-ray structure of human phosphomannomutase 2 (PMM2)."Submitted (FEB-2009) to the PDB data bank
  14. "Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)."Mol. Genet. Metab. 68:220-226(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A."Am. J. Hum. Genet. 62:542-550(1998) [PubMed] [Europe PMC] [Abstract]
  16. "Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1."Eur. J. Hum. Genet. 6:331-336(1998) [PubMed] [Europe PMC] [Abstract]
  17. "Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1."Clin. Genet. 55:50-54(1999) [PubMed] [Europe PMC] [Abstract]
  18. "Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli."Eur. J. Hum. Genet. 7:884-888(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping."Hum. Mutat. 14:543-544(1999) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)."Hum. Mutat. 16:386-394(2000) [PubMed] [Europe PMC] [Abstract]
  21. "PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families."Hum. Mutat. 16:395-400(2000) [PubMed] [Europe PMC] [Abstract]
  22. "Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1."J. Inherit. Metab. Dis. 23:162-174(2000) [PubMed] [Europe PMC] [Abstract]
  23. "Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry."Mol. Genet. Metab. 73:71-76(2001) [PubMed] [Europe PMC] [Abstract]
  24. "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)."Eur. J. Hum. Genet. 10:643-648(2002) [PubMed] [Europe PMC] [Abstract]
  25. "A new insight into PMM2 mutations in the French population."Hum. Mutat. 25:504-505(2005) [PubMed] [Europe PMC] [Abstract]
  26. "Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients."Mol. Genet. Metab. 90:408-413(2007) [PubMed] [Europe PMC] [Abstract]