Also known as CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2
Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.
The protein encoded by this gene 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. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008].
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Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.
== Function ==
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).