KEGG   Homo sapiens (human): 25974Help
Entry
25974             CDS       T01001                                 

Gene name
MMACHC, RP11-291L19.3, cblC
Definition
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Orthology
K14618  
methylmalonic aciduria homocystinuria type C protein
Organism
hsa  Homo sapiens (human)
Pathway
Vitamin digestion and absorption
Disease
H00174  
Methylmalonic aciduria (MMA)
Class
Organismal Systems; Digestive system; Vitamin digestion and absorption [PATH:hsa04977]
BRITE hierarchy
SSDB OrthologParalogGFIT
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
1p34.1
AA seq 282 aa AA seqDB search
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
NT seq 849 nt NT seq  +upstreamnt  +downstreamnt
atggagccgaaagtcgcagagctgaagcagaagatcgaggacacgctatgtccttttggc
ttcgaggtttaccccttccaggtggcatggtacaatgaactcttgcctccagccttccac
ctaccgctgccaggacctaccctggccttcctggtactcagcacgcctgccatgtttgac
cgggccctcaagcccttcttgcagagctgccacctccgaatgctgactgacccagtggac
cagtgtgtggcctaccatctgggccgtgttagagagagcctcccagagctgcagatagaa
atcattgctgactacgaggtgcaccccaaccgacgccccaagatcctggcccagacagca
gcccatgtagctggggctgcttactactaccaacgacaagatgtggaggctgacccatgg
gggaaccagcgcatatcaggtgtgtgcatacacccccgatttgggggctggtttgccatc
cgaggggtagtgctgctgccagggatagaggtgccagatctgccacccagaaaacctcat
gactgtgtacctacaagagctgaccgtatcgccctactcgaaggcttcaatttccactgg
cgtgattggacttaccgggatgctgtgacaccccaggagcgctactcagaagagcagaag
gcctacttctccactccacctgcccaacgattggccctattgggcttggctcagccctca
gagaagcctagttctccctccccggaccttccctttaccacacccgcccccaagaagcct
gggaatcccagcagagcccggagctggctcagccccagggtctcaccacctgcatcccct
ggcccttga

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