Description
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, hypertrophic cardiomyopathy, cerebellar ataxia, galactosemia, peripheral neuropathy, hypogonadism, neuropathy, hypotonia, cardiomyopathy, thrombocytopenia, ataxia, alcoholism, and malaria. The PMM2 protein has also shown an interaction with HIST1H4A, HIST1H4B, HIST1H4D, HIST1H4E, HIST1H4C, and over 130 other proteins in synthesis of substrates in N-glycan biosynthesis, asparagine N-linked glycosylation, metabolism of proteins, post-translational protein modification, biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, fructose and mannose metabolism, amino sugar and nucleotide sugar metabolism, GDP-mannose biosynthesis, and colanic acid building blocks biosynthesis pathways.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
Human
|
| Product By Gene ID |
5373 |
| Alternate Names |
- CDG1
- CDG1a
- CDG1A
- CDGS
- EC 5.4.2.8
- phosphomannomutase 2
- PMM 2
|
