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5'-deoxyadenosylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-5'-deoxyadenosylglutathione
an alkylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + an S-alkylglutathione
butyrylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-butyrylglutathione
ethylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-ethylglutathione
hexylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-hexylglutathione
methylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-methylglutathione
pentylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-pentylglutathione
propylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-propyglutathione
additional information
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5'-deoxyadenosylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-5'-deoxyadenosylglutathione
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5'-deoxyadenosylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-5'-deoxyadenosylglutathione
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-
-
?
5'-deoxyadenosylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-5'-deoxyadenosylglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC (a cytosolic cobalamin trafficking chaperone), directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
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an alkylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + an S-alkylglutathione
the CblC protein is responsible for alkylcobalamins dealkylation in mammalian cells
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?
an alkylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + an S-alkylglutathione
the CblC protein is responsible for alkylcobalamins dealkylation in mammalian cells
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?
an alkylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + an S-alkylglutathione
the enzyme is involved in the cobalamin-processing pathway. It acts as a a cytosolic cobalamin trafficking chaperone
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?
butyrylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-butyrylglutathione
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-
-
?
butyrylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-butyrylglutathione
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-
-
?
butyrylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-butyrylglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC, directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
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-
?
ethylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-ethylglutathione
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-
-
?
ethylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-ethylglutathione
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-
-
?
ethylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-ethylglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC, directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
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-
?
hexylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-hexylglutathione
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-
-
?
hexylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-hexylglutathione
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-
-
?
hexylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-hexylglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC, directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
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-
?
methylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-methylglutathione
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-
-
?
methylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-methylglutathione
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-
-
?
methylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-methylglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC, directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
-
-
?
pentylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-pentylglutathione
-
-
-
?
pentylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-pentylglutathione
-
-
-
?
pentylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-pentylglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC, directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
-
-
?
propylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-propyglutathione
-
-
-
?
propylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-propyglutathione
-
-
-
?
propylcobalamin + [alkylcobalamin reductase] + glutathione
cob(I)alamin-[alkylcobalamin reductase] + S-propyglutathione
the enzyme can bind internalized alkylcobalamins and process them to cob(I)alamin using the thiolate of glutathione for nucleophilic displacement. The product remains bound to the protein, and, following its oxidation to cob(II)alamin, is transferred by the enzyme, together with its interacting partner MMADHC, directly to downstream enzymes involved in adenosylcobalamin and methylcobalamin biosynthesis. Biologically relevant thiols, e.g. cysteine and homocysteine, cannot substitute for glutathione
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?
additional information
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in addition to its dealkylase function, the enzyme also catalyses a decyanase reaction with cyanocobalamin, cf. EC 1.16.1.6, cyanocobalamin reductase (cyanide-eliminating)
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additional information
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in addition to its dealkylase function, the enzyme also catalyses a decyanase reaction with cyanocobalamin, cf. EC 1.16.1.6, cyanocobalamin reductase (cyanide-eliminating)
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alkylcobalamin dealkylase deficiency
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
alkylcobalamin dealkylase deficiency
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Anemia, Megaloblastic
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Avitaminosis
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Craniofacial Abnormalities
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Genetic Diseases, Inborn
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
Glycogen Storage Disease Type VI
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Homocystinuria
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
Homocystinuria
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Homocystinuria
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Homocystinuria
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Homocystinuria
Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene.
Homocystinuria
Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.
Homocystinuria
Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder.
Homocystinuria
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Homocystinuria
Epimutation of MMACHC compound to a genetic mutation in cblC cases.
Homocystinuria
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Homocystinuria
MMACHC gene mutation in familial hypogonadism with neurological symptoms.
Homocystinuria
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Homocystinuria
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
Homocystinuria
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Homocystinuria
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Homocystinuria
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
Homocystinuria
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Homocystinuria
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Homocystinuria
Outcomes of patients with cobalamin C deficiency: A single center experience.
Homocystinuria
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Homocystinuria
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Homocystinuria
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Homocystinuria
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Homocystinuria
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy.
Hyperhomocysteinemia
A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.
Hyperhomocysteinemia
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1.
Hyperhomocysteinemia
High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
Hyperhomocysteinemia
Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease.
Hypertension
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
Hypogonadism
MMACHC gene mutation in familial hypogonadism with neurological symptoms.
Infections
Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.
Kallmann Syndrome
Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.
Macular Degeneration
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Melanoma
Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles.
Melanoma
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
Metabolic Diseases
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Neoplasms
Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles.
Neoplasms
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
Phenylketonurias
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Phenylketonurias
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Pulmonary Arterial Hypertension
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
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Kim, J.; Hannibal, L.; Gherasim, C.; Jacobsen, D.W.; Banerjee, R.
A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins
J. Biol. Chem.
284
33418-33424
2009
Homo sapiens (Q9Y4U1), Homo sapiens
brenda
Koutmos, M.; Gherasim, C.; Smith, J.; Banerjee, R.
Structural basis of multifunctionality in a vitamin B 12-processing enzyme
J. Biol. Chem.
286
29780-29787
2011
Homo sapiens (Q9Y4U1)
brenda
Deme, J.C.; Miousse, I.R.; Plesa, M.; Kim, J.C.; Hancock, M.A.; Mah, W.; Rosenblatt, D.S.; Coulton, J.W.
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism
Mol. Genet. Metab.
107
352-362
2012
Homo sapiens (Q9Y4U1), Homo sapiens
brenda
Hannibal, L.; Kim, J.; Brasch, N.E.; Wang, S.; Rosenblatt, D.S.; Banerjee, R.; Jacobsen, D.W.
Processing of alkylcobalamins in mammalian cells A role for the MMACHC (cblC) gene product
Mol. Genet. Metab.
97
260-266
2009
Bos taurus (Q5E9C8), Bos taurus, Homo sapiens (Q9Y4U1), Homo sapiens
brenda