phosphomannomutase 2; PMM 2 (PMM2)

Function

• role in the synthesis of the GDP-mannose & dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (putative)
• nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2

alpha-D-mannose 1-phosphate = D-mannose 6-phosphate

Kinetic parameters:

• KM=16 uM for alpha-D-mannose 1-phosphate
• KM=13.5 uM for alpha-D-glucose 1-phosphate

Structure

• homodimer (putative)
• belongs to the eukaryotic PMM family

Compartment

cytoplasm

Pathology

• defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (Jaeken syndrome)

Laboratory

• phosphomannomutase 2 in fibroblasts
• PMM2 gene mutation

More general terms

• phosphomannomutase

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5373
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5373
• OMIM: https://mirror.omim.org/entry/212065
• OMIM: https://mirror.omim.org/entry/601785
• UniProt: http://www.uniprot.org/uniprot/O15305.html