| Entry |
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| Gene name |
PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM_2
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| Definition |
phosphomannomutase 2 (EC:5.4.2.8)
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| Orthology |
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| Organism |
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| Pathway |
| Fructose and mannose metabolism | | Amino sugar and nucleotide sugar metabolism | | Metabolic pathways |
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| Disease |
| Congenital disorders of glycosylation (CDG) type I |
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| Class |
Metabolism; Carbohydrate metabolism; Fructose and mannose metabolism [PATH: hsa00051]
Metabolism; Carbohydrate metabolism; Amino sugar and nucleotide sugar metabolism [PATH: hsa00520]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Structure |
PDB: |
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| Position |
16p13
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| AA seq |
246 aa  
MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS |
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| NT seq |
741 nt  +upstreamnt +downstreamnt
atggcagcgcctggcccagcgctctgcctcttcgacgtggatgggaccctcaccgccccg
cggcagaaaattaccaaagaaatggatgacttcctacaaaaattgaggcagaagatcaaa
atcggagtggtaggcggatcggactttgagaaagtgcaggagcaactgggaaatgatgtg
gttgaaaaatacgattatgtgtttccagaaaatggcttggtagcatacaaagatgggaaa
ctcttgtgtagacagaatattcaaagtcatctgggtgaggccctaatccaagatttaatc
aactactgtctgagctacattgcgaaaattaaactcccgaagaagaggggtactttcatt
gaattccgaaatgggatgttaaacgtgtcccctattggaagaagctgcagccaagaagaa
cgcattgagttctacgaactcgataaaaaagaaaatataagacaaaagtttgtagcagat
ctacggaaagagtttgctggaaaaggcctcacgttttccataggaggccagatcagcttt
gatgtctttcctgatggatgggacaagagatactgtctgcgacatgtggaaaatgacggt
tataagaccatttatttctttggagacaaaactatgccaggtggcaatgaccatgagatc
ttcacagaccccagaaccatgggctactccgtgacagcgcctgaggacacgcgcaggatc
tgtgaactgctgttctcctaa |
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