| GENE NAME | PMM2 |
| CHROMOSOME | 16 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000140650 |
| UNIPROT ACCESSION NUMBER | O15305 |
| GO MOLECULAR FUNCTION | ['phosphomannomutase activity', 'metal ion binding', 'protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00051; hsa00520; hsa01100; hsa01240; hsa00051; hsa00520; hsa01100; hsa01240; R-HSA-1643685; R-HSA-3781865; R-HSA-392499; R-HSA-4043911; R-HSA-446193; R-HSA-446203; R-HSA-446205; R-HSA-446219; R-HSA-5609975; R-HSA-5668914; R-HSA-597592 |
| 4 combinations linked to PMM2 | OLI1738; OLI923; OLI503; OLI329 |
| 6 variants linked to PMM2 | PMM2:c.422G>A, p.Arg141His; PMM2:c.368G>A, p.Arg123Gln; PMM2:c.640G>A, p.Gly214Ser; PMM2:c.442G>A, p.Asp148Asn; PMM2:c.357C>G, p.Phe119Leu; PMM2:c.470T>C, p.Phe157Ser |
| 4 diseases linked to PMM2 | X-linked cerebellar ataxia; Amyotrophic lateral sclerosis; Transposition of the great arteries; Isolated constitutional thrombocytopenia,PMM2-CDG |