Recombinant Human Methylmalonic aciduria and homocystinuria type C protein (MMACHC)

1. The epimutation is present in three generations and results from PRDX1 mutations that force antisense transcription of MMACHC. PMID: 29302025
2. Partial CblC-type inherited Methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A) can onset with severe metabolic Atypical hemolytic uremic syndrome. PMID: 29068997
3. The crystal structure of ceCblC provides insights into how architectural differences at the alpha- and beta-faces of cobalamin promote the thiol oxidase activity of ceCblC but mute it in wild-type human CblC. PMID: 28442570
4. Sequencing of the MMACHC gene is used for confirming the diagnosis of cblC disease. MMACHC mutations were found in all the nine patients. 7 different mutations were identified, including c.609G>A, c.455_457delCCC, c.394C>T, c.445_446insA, c.658_660delAAG, c.452A>G and IVS1+1G>A. The most frequent mutation was c.609G>A (6/9). Two patients had homozygous mutations (c.445_446insA/c.445_446insA and c.609G>A/c.609G>A). PMID: 26563984
5. Case Report: c.567dupT,p.(Ile190Tyrfs*13) MMACHC heterozygous mutation underlying methylmalonic academia in infant. PMID: 27383490
6. Five different known mutations in either MUT or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia. PMID: 25982642
7. MMACHC mutation was found in children diagnosed with hemolytic uremic syndrome secondary to cobalamin C disorder. PMID: 26253414
8. the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site PMID: 26483544
9. These results indicated that hypergonadotropic hypogonadism may be a novel clinical manifestation of cblC disease, but more reports on additional patients are needed to support this hypothesis. PMID: 26283149
10. an adult patient with bull's eye macular lesions and no clinically relevant systemic symptoms was diagnosed with cblC by genetic screening and follow-up biochemical laboratory tests. PMID: 25687216
11. A novel mutation p.G155R of the MMACHC gene is identified in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. PMID: 26149271
12. Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. PMID: 25535791
13. mutation analysis of the MMACHC gene in four patients revealed novel heterozygous mutations at nucleotide 276 (c.276G > A [p.Glu926Glu] and c.276G > T [p.Glu92Asp]), which is located at the end of exon 2. PMID: 24853097
14. HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression PMID: 25281006
15. The gene responsible for cblC, named MMACHC, catalyzes the reductive decyanation of cyanocobalamin. PMID: 24577983
16. data suggest that the interaction of methionine synthase with MMACHC may play a role in the regulation of the cellular processing of cobalamins that is required for cobalamin cofactor synthesis PMID: 23825108
17. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. PMID: 23270877
18. The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC. PMID: 22832074
19. a structural framework provides a framework for understanding catalytic function and disease mechanism for the multifunctional MMACHC complex. PMID: 22642810
20. MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system). PMID: 21071249
21. defects occurring in the MMACHC gene are the major cause of this disease in Chinese patients with combined methylmalonic aciduria and homocystinuria PMID: 20631720
22. MMACHC-wt and MMACHC-R161Q are both very thermolabile proteins in their apo forms, with melting temperatures (T(m)) of 39.3+/-1.0 and 37.1+/-0.7 degrees C, respectively PMID: 20219402
23. Mutations in MMACHC are associated with altered cellular oxidative stress and apoptosis processes in the presence or absence of vitamin B(12). PMID: 19760748
24. MMACHC with the G147D mutation is unable to bind either cyanocobalamin or hydroxocobalamin, providing a straight forward explanation for the absence of response to either vitamin form. PMID: 19700356
25. Diverse and clinically significant structural heart defects appear to be highly prevalent in cblC type methylmalonic aciduria and homocystinuria. PMID: 19767224
26. Data show that the catalytic turnover numbers for the dealkylation of methylcobalamin and 5'-deoxyadenosylcobalamin by MMACHC are 11.7 +/- 0.2 and 0.174 +/- 0.006 h(-1) at 20 degrees C, respectively. PMID: 19801555
27. One mutation, 271dupA, in MMACHC accounted for 40% of all disease alleles. PMID: 16311595
28. Mutation analysis of the MMACHC gene showed that both patients were homozygous for 394C --> T which suggests a founder effect in Late onset cobalamin C disorder. PMID: 17431913
29. c.271dupA (accounting for 55% of the MMACH alleles in our cohort) followed by c.394C>T (16%) and c.331C>T (9%) were the most frequent mutations. PMID: 18164228
30. Most patients (eight of nine patients investigated) were compound heterozygotes for the 271dupA mutation and a missense mutation. PMID: 18245139
31. MMACHC catalyzes a reductive decyanation reaction that removes the cyanide group in vitamin B(12) or cyanocobalamin PMID: 18779575
32. A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria. PMID: 19199254
33. Epigenetic inactivation of the MMACHC gene is responsible for methionine dependence in human melanoma cell line MeWo-LC1. PMID: 19200761
34. MMACHC was sequenced from the DNA of 118 cblC individuals. Eleven novel mutations were identified.Genotype-phenotype correlations of common mutations were apparent. PMID: 19370762
35. These studies suggest that the CblC protein is responsible for early processing of both CNCbl (decyanation) and alkylcobalamins (dealkylation) in mammalian cells. PMID: 19447654

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HGNC: 24525

OMIM: 277400

KEGG: hsa:25974

STRING: 9606.ENSP00000383840

UniGene: Hs.13024