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PMM2
Gene Name
phosphomannomutase 2
Image
Gene Ontology Annotations
Cellular Component
Cytosol
Neuronal Cell Body
Extracellular Vesicular Exosome
Molecular Function
Phosphomannomutase Activity
Biological Process
Protein Glycosylation
Dolichol-linked Oligosaccharide Biosynthetic Process
GDP-mannose Biosynthetic Process
Protein N-linked Glycosylation Via Asparagine
Mannose Biosynthetic Process
Post-translational Protein Modification
Cellular Protein Metabolic Process
Pathways
Diseases of glycosylation
Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)
Defective MGAT2 causes MGAT2-CDG (CDG-2a)
Defective ALG1 causes ALG1-CDG (CDG-1k)
Defective MOGS causes MOGS-CDG (CDG-2b)
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG9 causes ALG9-CDG (CDG-1l)
Defective MAN1B1 causes MRT15
Defective ALG11 causes ALG11-CDG (CDG-1p)
Defective ALG2 causes ALG2-CDG (CDG-1i)
Defective ALG3 causes ALG3-CDG (CDG-1d)
Post-translational protein modification
Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2
Synthesis of substrates in N-glycan biosythesis
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Synthesis of GDP-mannose
Defective ALG6 causes ALG6-CDG (CDG-1c)
Defective RFT1 causes RFT1-CDG (CDG-1n)
Asparagine N-linked glycosylation
Defective ALG8 causes ALG8-CDG (CDG-1h)
Defective MPDU1 causes MPDU1-CDG (CDG-1f)
Defective ALG12 causes ALG12-CDG (CDG-1g)
Diseases associated with N-glycosylation of proteins
Drugs
Diseases
GWAS
Protein-protein Interactions
1 interactors:
ACY3
Entrez ID
5373
HPRD ID
03472
Ensembl ID
ENSG00000140650
Uniprot IDs
F5H0W0
O15305
Q59F02
PDB IDs
2AMY
2Q4R
Enriched GO Terms of Interacting Partners
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Xenobiotic Metabolic Process
Cellular Response To Xenobiotic Stimulus
Response To Xenobiotic Stimulus
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