Gene: PMM2

Alternate names for this Gene: CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.2

Description of this Gene: phosphomannomutase 2

Type of Gene: protein-coding

Gene: LOC100130283

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs104894531 in PMM2;LOC100130283 gene and Congenital disorder of glycosylation type 1A PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 10571956 1999 Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PMID 9781039 1998 Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 11350185 2001 Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

PMID 17307006 2007 Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

PMID 10801058 2000 Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 10602363 1999 We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1).

PMID 9497260 1998 Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

PMID 11058896 2000 PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

PMID 11058895 2000 Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

PMID 10066032 1999 Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 15714316 2005 Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.

PMID 25355454 2015 A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

PMID 11156536 2001 High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

PMID 10602363 1999 We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1).

PMID 27415628 2016 Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

PMID 17920054 2007 Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).

rs80338708 in PMM2;LOC100130283 gene and Movement Disorders PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

rs80338708 in PMM2;LOC100130283 gene and Muscle hypotonia PMID 24498599 2013 Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

PMID 10602363 1999 Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

PMID 11343337 2001 Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

PMID 26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

PMID 26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

PMID 10854097 2000 Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 28425223 2017 Three families with mild PMM2-CDG and normal cognitive development.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 28373276 2017 Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

PMID 26805780 2016 Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).