| Entry |
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| Gene name |
ALG12, CDG1G, ECM39, PP14673, hALG12
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| Definition |
ALG12, alpha-1,6-mannosyltransferase (EC:2.4.1.260)
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| Orthology |
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| Organism |
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| Pathway |
| N-Glycan biosynthesis | | Metabolic pathways |
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| Module |
| N-glycan precursor biosynthesis |
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| Disease |
| Congenital disorders of glycosylation (CDG) type I |
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| Class |
Metabolism; Glycan biosynthesis and metabolism; N-Glycan biosynthesis [PATH: hsa00510]
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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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| Position |
22q13.33
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| AA seq |
488 aa  
MAGKGSSGRRPLLLGLLVAVATVHLVICPYTKVEESFNLQATHDLLYHWQDLEQYDHLEF
PGVVPRTFLGPVVIAVFSSPAVYVLSLLEMSKFYSQLIVRGVLGLGVIFGLWTLQKEVRR
HFGAMVATMFCWVTAMQFHLMFYCTRTLPNVLALPVVLLALAAWLRHEWARFIWLSAFAI
IVFRVELCLFLGLLLLLALGNRKVSVVRALRHAVPAGILCLGLTVAVDSYFWRQLTWPEG
KVLWYNTVLNKSSNWGTSPLLWYFYSALPRGLGCSLLFIPLGLVDRRTHAPTVLALGFMA
LYSLLPHKELRFIIYAFPMLNITAARGCSYLLNNYKKSWLYKAGSLLVIGHLVVNAAYSA
TALYVSHFNYPGGVAMQRLHQLVPPQTDVLLHIDVAAAQTGVSRFLQVNSAWRYDKREDV
QPGTGMLAYTHILMEAAPGLLALYRDTHRVLASVVGTTGVSLNLTQLPPFNVHLQTKLVL
LERLPRPS |
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| NT seq |
1467 nt  +upstreamnt +downstreamnt
atggctggaaaggggtcatcaggcaggcggcccctgctgctggggctgctggtggccgta
gccactgtccacctggtcatctgtccctacaccaaagtggaggagagcttcaacctgcag
gccacacatgacctgctctaccactggcaagacctggagcagtacgaccatcttgagttc
cccggagtcgtccccaggacgttcctcgggccagtggtgatcgcagtgttctccagcccc
gcggtttacgtgctttcgctgttagaaatgtccaagttttactctcagctaatagttaga
ggagtgcttggactcggcgtgatttttggactctggacgttacaaaaggaagtgagacgg
cacttcggggccatggtggccaccatgttctgctgggtgacggccatgcagttccacctg
atgttctactgcacgcggacactgcccaatgtgctggccctgcctgtagtcctgctggcc
ctcgcggcctggctgcggcacgagtgggcccgcttcatctggctgtcagccttcgccatc
atcgtgttcagggtggagctgtgcctgttcctgggcctcctgctgctgctggccttgggc
aaccgaaaggtttctgtagtcagagcccttcgccacgccgtcccggcagggatcctctgt
ttaggactgacggttgctgtggactcttatttttggcggcagctcacttggccggaagga
aaggtgctttggtacaacactgtcctgaacaaaagctccaactgggggacctccccgctg
ctgtggtacttctactcagccctgccccgcggcctgggctgcagcctgctcttcatcccc
ctgggcttggtagacagaaggacgcacgcgccgacggtgctggcactgggcttcatggca
ctctactccctcctgccacacaaggagctacgcttcatcatctatgccttccccatgctc
aacatcacggctgccagaggctgctcctacctgctgaataactataaaaagtcttggctg
tacaaagcggggtctctgcttgtgatcggacacctcgtggtgaatgccgcctactcagcc
acggccctgtatgtgtcccatttcaactacccaggtggcgtcgcaatgcagaggctgcac
cagctggtgcccccccagacagacgtccttctgcacattgacgtggcagccgcccagaca
ggtgtgtctcggtttctccaagtcaacagcgcctggaggtacgacaagagggaggatgtg
cagccggggacaggcatgctggcatacacacacatcctcatggaggcggcccctgggctc
ctggccctctacagggacacacaccgggtcctggccagcgtcgtggggaccacaggtgtg
agtctgaacctgacccaactgccccccttcaacgtccacctgcagacaaagctggtgctt
ctggagaggctcccccggccgtcctga |
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