Gene: LOC100130283

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs151319324 in LOC100130283;PMM2 gene and Congenital disorder of glycosylation type 1A PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

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

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

PMID 9781039 1998 Absence of homozygosity for predominant mutations in PMM2 in Danish patients 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 17307006 2007 Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

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

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

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

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

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

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

PMID 10386614 1999 Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

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

PMID 21541725 2011 Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

PMID 17166182 2007 Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.

PMID 11715002 2002 Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

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

PMID 17186415 2007 Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).

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

rs80338709 in LOC100130283;PMM2 gene and Dysmorphic features 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 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

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

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

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

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

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

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

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

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

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