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NameMethylmalonic aciduria and homocystinuria type C protein
SynonymsNot Available
Gene NameMMACHC
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004268|Methylmalonic aciduria and homocystinuria type C protein
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
Number of residues282
Molecular Weight31728.095
Theoretical pI7.92
GO Classification
Functions
  • cobalamin binding
Processes
  • cobalamin biosynthetic process
  • small molecule metabolic process
  • vitamin metabolic process
  • water-soluble vitamin metabolic process
  • cobalamin metabolic process
Components
  • mitochondrion
  • cytosol
General FunctionCobalamin binding
Specific FunctionMay be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID52545527
UniProtKB IDQ9Y4U1
UniProtKB Entry NameMMAC_HUMAN
Cellular LocationCytoplasm
Gene sequence
>lcl|BSEQ0011573|Methylmalonic aciduria and homocystinuria type C protein (MMACHC)
ATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGC
TTCGAGGTTTACCCCTTCCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCAC
CTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGAC
CGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGAC
CAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGAGCCTCCCAGAGCTGCAGATAGAA
ATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCA
GCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGG
GGGAACCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATC
CGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCAT
GACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGG
CGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAG
GCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCA
GAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCT
GGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCT
GGCCCTTGA
GenBank Gene IDAL080062
GeneCard IDNot Available
GenAtlas IDMMACHC
HGNC IDHGNC:24525
Chromosome Location1
Locus1p34.1
References
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