PMM2/Phosphomannomutase 2: Proteins and Enzymes

PMM2, also known as Phosphomannomutase 2, is a 246 amino acid protein that is 28 kDa, catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Studies are being performed on the relationship of this protein to congenital disorder of glycosylation, hydrops fetalis, premature ovarian failure, cerebellar hypoplasia, metabolic disorders, alcohol abuse, intellectual disability, ...