PMM2

Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.^[4][5]

PMM2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AMY, 2Q4R
Identifiers
Aliases	PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
External IDs	OMIM: 601785; MGI: 1859214; HomoloGene: 257; GeneCards: PMM2; OMA:PMM2 - orthologs
Gene location (Mouse) Chr. Chromosome 16 (mouse)[1] Band 16|16 A1 Start 8,455,538 bp[1] End 8,480,331 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas Achilles tendon rectum bone marrow cells sural nerve thymus duodenum placenta right lobe of liver endometrium Top expressed in seminal vesicula yolk sac spermatocyte salivary gland duodenum crypt of lieberkuhn of small intestine parotid gland jejunum pyloric antrum morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function isomerase activity protein binding phosphomannomutase activity Cellular component cytoplasm soma nucleus cytosol Biological process protein glycosylation GDP-mannose biosynthetic process mannose metabolic process protein N-linked glycosylation protein targeting to ER Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 which manifest as the congenital disorder of glycosylation PMM2 deficiency.^[5]