| Gene Name | PMM2 |
|
| Specie | Homo sapiens | |
| Full Name | phosphomannomutase 2 | |
| Also known as | CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2 | |
| Coordinate | chr16:8797813-8849326 | |
| Strand | + | |
| Gene summary | 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] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| PMM2P1 | chr18:10636638-10638966 | + |
Intergenic |
ENSG00000265038 | UCSC |
| PMM2P2 | chr18:12190637-12192974 | - |
Intergenic |
ENSG00000267116 | UCSC |
| >XM_005255374.4 |
| GAACCCGGAAGTTCCGGGCCGAGTTCCTCGTGCCAACGTGTCTTGTAAGGTGCGGCTAGAAACTGGGGACATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCGCGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAAATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATCAACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATTGAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAACGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGATCTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTTGATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGTTATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTGGCAATGACCATGAGATCTTCACAGACCCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATCTGTGAACTGCTGTTCTCCTAACGTGGGAGCGGGAGGGGCGGGGTCCCGGCTGACAAGCCAGCATAGGGCATTCGGTGGCCAGAGCCGAGGGTCCTCCCACACGTGCTCACCCACCCGCAGCCTAGGCAGGCTCTGCATGCTATGCCAGGCATGTGCAGTCTGGACTTCCACCTCCAGTGCCAGAAACTTCCAGAAGGAAGGAGAAAACTCTTGTCAAGAATGGCCCAGAGGAATGCCTCGCACAAAAGGTCTTCCCCACCCACCCCCAGCCCCCTAGTCTAATACCCACCCTGATACGTGCAATCATGTAGTTTTGGCGGAAATTTCCCCATCATTCTAGGATGATACAGAAAGAAAAACTGTGCCTGGACCCTCCCTCTTGGTGGGTCTGTGGAAACATAAGCGGTTTTTTTAATGGGCCCCTGCATCAATACCAAACATGGGGGTTTGGTAATGAGAAACCAGGACAGGCCATCTGCAGTGACCCAGCCCAGGACGAAGTTTACAAACACCTCCTGGAACGAAGCTCCCGCCTGCATGTCACCTTGATGGGGGCTGTGAGTGGGGCAGTGTGATACCCAGTGACTAGACGCACTCTGCGTTTTCCCGTGTTTGGGGCTGAGGCCTGCTGGACAGATGGCTGGCCAAGTGGGAGCAGACCCTAGGGAGTTTGCACCTCGGCTGGGCCGGATTCGGACCGGCTCTGTGTTCACTACACTCAGAATAGCCTGGCTGCTTCTCTGTCTCCGAGACCGGAGGTAGTGGGAACCAACAGCTGGGCTGGAGAGTTGGTGCTGGCAAAACAGTCCTTGCCCTGGGGCCGGTTCTTACCCAGGTCCAGAGAAACCAACGCGGGATGTCAGACTTCACCAAAAGGACTTTCTGGTTGCCCCTGGCTGGCTTCCTGGAGGCGTTCGCCTCTAGTTTCTCAGGGATGGAGCGAGAGCCCAGCCAGAGAACAGTAAGAGGAGCTGCTCTCCTATCTGCACTCACCCAGGCCTTCACCCAGACTTTACCACGGAGGCGGCTGAGTGCAGCTACAGCTAGGTCCGCGTCCCTCACTCTTTTCATCTTCTGCACGTTCTTCGTGAAACTGGAAGGATCCCGGGTCTCAGCTAGAACACGGTGGAAGAGAACTTTCCTAGGAAACGGTTCATGTGTCACTTTTCAGGATGTGGAAACACTGAGCCATACACCCTCCATTGCTTGGTGCTGGGGTTGTGTGGCCTCCACTGGGCACTTGCCGACCTGAGTCTGGGGCCAGGGGAGCCCAGGCTGCCCTGCACTCCTGCCTCCCAGCCCACAGCCAGGTGCTTTCATCACAGCTAAACCTGGTTCCCTCCAAACCTCCCAGCCACTCGGGCTTGTAACTGTCTGAGCCCCGGATCCGGTGGGGTGAAAGCAGCCAGCTCATCCCAGTGACTCACAGGACACAGCCATCCAGCGGCATCTTTCCTTGTCGAATGATACTGTAATGACCTTCCAAAGTGAAGAGTAGCACATTAAAGTGATTTTATtgttt |