full name
phosphomannomutase 2

synonyms
CDG1, CDG1a, CDGS, PMI, PMI1, PMM, PMM2, ENSG00000140650

HGNC
HGNC:9115

Entrez Gene
Gene:5373

ENSEMBL
ENSG00000140650

location
chr: 16
start: 8891670
stop: 8943194
strand: +

OMIM
OMIM:601785: PMM2 (Autosomal recessive inheritance)
OMIM:212065: Congenital disorder of glycosylation, type Ia

transcripts
NM_000303.2

pathways
Amino sugar and nucleotide sugar metabolism [NCBI:82979] [KEGG:hsa00520] [PUBMED:16995900] [PUBMED:15134748] [PUBMED:11479276] [PUBMED:10984043] [PUBMED:16237198] [PUBMED:18199744] [PUBMED:15809294] [PUBMED:8071227] [PUBMED:14450717] [PUBMED:2793832] [PUBMED:16277754] [PUBMED:10931327] [PUBMED:17827295] [PUBMED:15695810] [PUBMED:18304669] [PUBMED:9811644] [PUBMED:11447132] [PUBMED:8444803] [PUBMED:12562791] [PUBMED:17190829] [PUBMED:17085508] [PUBMED:15489439] [PUBMED:16452451]
Asparagine N-linked glycosylation [NCBI:1268714] [REACTOME:R-HSA-446203] [PUBMED:16807922] [PUBMED:19647993] [PUBMED:10580125] [PUBMED:19616933] [PUBMED:20301507] [PUBMED:20301244]
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein [NCBI:1268715] [REACTOME:R-HSA-446193] [PUBMED:20301507]
Fructose and mannose metabolism [NCBI:82930] [KEGG:hsa00051]
GDP-mannose biosynthesis [NCBI:142196] [BIOCYC:HUMAN_PWY-5659]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Synthesis of GDP-mannose [NCBI:1268719] [REACTOME:R-HSA-446205]
Synthesis of substrates in N-glycan biosythesis [NCBI:1268716] [REACTOME:R-HSA-446219] [PUBMED:18597486]