| Entry |
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| Gene name |
MMACHC, RP11-291L19.3, cblC
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| Definition |
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
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| Orthology |
| methylmalonic aciduria homocystinuria type C protein |
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| Organism |
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| Pathway |
| Vitamin digestion and absorption |
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| Disease |
| Methylmalonic aciduria (MMA) |
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| Class |
Organismal Systems; Digestive system; Vitamin digestion and absorption [PATH: hsa04977]
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| SSDB |
   |
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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 |
1p34.1
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| AA seq |
282 aa  
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP |
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| NT seq |
849 nt  +upstreamnt +downstreamnt
atggagccgaaagtcgcagagctgaagcagaagatcgaggacacgctatgtccttttggc
ttcgaggtttaccccttccaggtggcatggtacaatgaactcttgcctccagccttccac
ctaccgctgccaggacctaccctggccttcctggtactcagcacgcctgccatgtttgac
cgggccctcaagcccttcttgcagagctgccacctccgaatgctgactgacccagtggac
cagtgtgtggcctaccatctgggccgtgttagagagagcctcccagagctgcagatagaa
atcattgctgactacgaggtgcaccccaaccgacgccccaagatcctggcccagacagca
gcccatgtagctggggctgcttactactaccaacgacaagatgtggaggctgacccatgg
gggaaccagcgcatatcaggtgtgtgcatacacccccgatttgggggctggtttgccatc
cgaggggtagtgctgctgccagggatagaggtgccagatctgccacccagaaaacctcat
gactgtgtacctacaagagctgaccgtatcgccctactcgaaggcttcaatttccactgg
cgtgattggacttaccgggatgctgtgacaccccaggagcgctactcagaagagcagaag
gcctacttctccactccacctgcccaacgattggccctattgggcttggctcagccctca
gagaagcctagttctccctccccggaccttccctttaccacacccgcccccaagaagcct
gggaatcccagcagagcccggagctggctcagccccagggtctcaccacctgcatcccct
ggcccttga |
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