MGP Database

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MGP002342

UniProt Annotations

Entry Information
Gene Namephosphomannomutase 2
Protein EntryPMM2_HUMAN
UniProt IDO15305
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15305-1; Sequence=Displayed; Name=2; IsoId=O15305-2; Sequence=VSP_056228, VSP_056229; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=16 uM for alpha-D-mannose 1-phosphate {ECO:0000269|PubMed:16540464}; KM=13.5 uM for alpha-D-glucose 1-phosphate {ECO:0000269|PubMed:16540464};
Catalytic ActivityAlpha-D-mannose 1-phosphate = D-mannose 6- phosphate.
DiseaseCongenital disorder of glycosylation 1A (CDG1A) [MIM:212065]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 1A 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. {ECO:0000269|PubMed:10066032, ECO:0000269|PubMed:10571956, ECO:0000269|PubMed:10602363, ECO:0000269|PubMed:10801058, ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:11058896, ECO:0000269|PubMed:11350185, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:15844218, ECO:0000269|PubMed:17307006, ECO:0000269|PubMed:9140401, ECO:0000269|PubMed:9497260, ECO:0000269|PubMed:9781039}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. {ECO:0000250}.
PathwayNucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6- phosphate: step 2/2.
SimilarityBelongs to the eukaryotic PMM family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer. {ECO:0000250}.
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