NP_000294.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
phosphomannomutase 2
NCBI Official Synonym Full Names
phosphomannomutase 2
NCBI Official Synonym Symbols
PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2 [Similar Products]
NCBI Protein Information
phosphomannomutase 2; phosphomannose isomerase 1
UniProt Protein Name
Phosphomannomutase 2
UniProt Synonym Gene Names
UniProt Entry Name
PMM2_HUMAN
NCBI Summary for PMM2
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. [provided by RefSeq, Jul 2008]
UniProt Comments for PMM2
PMM2: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A); also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. Belongs to the eukaryotic PMM family.
Protein type: Isomerase; Carbohydrate Metabolism - fructose and mannose; EC 5.4.2.8; Carbohydrate Metabolism - amino sugar and nucleotide sugar
Chromosomal Location of Human Ortholog: 16p13
Cellular Component: cell soma; cytosol
Molecular Function: phosphomannomutase activity
Biological Process: cellular protein metabolic process; mannose biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid glycosylation; GDP-mannose biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification
Disease: Congenital Disorder Of Glycosylation, Type Ia
Research Articles on PMM2
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Products associated with anti-PMM2 antibody
Pathways associated with anti-PMM2 antibody
Diseases associated with anti-PMM2 antibody
Organs/Tissues associated with anti-PMM2 antibody
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