What is pmm1 and pmm2?

PMM1 and PMM2 refer to phosphomannomutase enzymes involved in the conversion of mannose-6-phosphate to mannose-1-phosphate, a crucial step in the synthesis of glycoproteins and glycolipids. PMM1 is primarily found in the cytoplasm, while PMM2 is located in the cytoplasm and is considered the more prominent isoform in humans. Mutations in the PMM2 gene can lead to congenital disorders of glycosylation, specifically PMM2-CDG, which can affect multiple organ systems.