Recombinant Human Methylmalonyl-CoA mutase, mitochondrial (MMUT)

1. localization of hMMAA and its colocalization with hMCM in human PMID: 28943303
2. Study identified 41 novel mutations in patients with methylmalonic aciduria (MMA); most of them were missense mutations. The absence of MUT protein in most of the patient cell lines, suggesting protein instability as a major mechanism of deficiency in mut-type MMA. PMID: 27167370
3. A total of 54 different mutations in MUT were identified in 48 patients; 16 novel mutations were identified... In five patients, the NGS panel did not confirm the diagnosis made by complementation analysis. One of these patients was found to carry 2 novel mutations PMID: 27233228
4. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants PMID: 26830710
5. In methylmalonic acidemia,a total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. PMID: 26454439
6. Two novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), are associated with methylmalonic academia in a Chinese family. PMID: 27060300
7. 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
8. 3 Patients with Isolated methylmalonic acidemia lacked methylmalonyl-CoA mutase (MCM) activity and had no MCM band, patients with the cobalamin defects had high MCM activity levels and an intense MCM band at about 83 kDa, in comparison to those in their parents. PMID: 26370686
9. a novel splice site mutation in intron 12 of the MUT gene is a potential highly pathogenic allele via inhibition of alternative splicing leading to Methylmalonic aciduria. PMID: 26449400
10. data stratify MUT missense mutations into categories of biochemical defects, including (1) reduced protein level due to misfolding, (2) increased thermolability, (3) impaired enzyme activity, and (4) reduced cofactor response in substrate turnover PMID: 25125334
11. This is the first description of a homozygous mutation in the N-terminal extended segment of the MCM apoenzyme. PMID: 24330302
12. Mutations in MUT cause methylmalonic acidemia. PMID: 24406457
13. Using alanine-scanning mutagenesis, we demonstrate that the switch III motif is critical for bidirectional signal transmission of the GTPase-activating protein activity of MCM and the chaperone functions of MeaB in the MeaB-MCM complex. PMID: 23873214
14. The contribution of Glu338 in human MCM to adenosylcobalamin Co-C bond labilization and catalysis was evaluated by substituting the residue with a glutamine, aspartate, or alanine. The MCM variants showed 16-, 330-, and 12-fold reductions in k(cat). PMID: 23311430
15. This work reveals that Mexican patients with MMA have new (p.V136F) as well as worldwide and hispanic reported mutations. The mutation R108C is the most frequent change (40% of total alleles) mainly in patients from Leon, Guanajuato PMID: 23045948
16. Pathogenicity of the human truncation mutant results from its inability to sequester adenosyltransferase (AdoCbl) for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation and disease. PMID: 21604717
17. Methylmalonyl-CoA Mutase intronic variations causing aberrantly spliced messenger RNA is associated with propionic and methylmalonic acidemia. PMID: 17966092
18. MMAA acts as a chaperone of human MCM protein. PMID: 21138732
19. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. PMID: 20876572
20. CPS1, MUT, NOX4, and DPEP1 is associated with plasma homocysteine in healthy Women. PMID: 20031578
21. Seventeen MUT gene mutations were detected in 14 of the 21 methylmalonic acidemia patients, among them 8 mutations were novel. PMID: 19806564
22. Analysis of the prevalence and distribution of MCM mutations throughout the coding sequence in relation to the enzyme structure. PMID: 15643616
23. The MUT gene was sequenced in 160 patients with mut methylmalonic acidemia (MMA). Sequence analysis identified mutations in 96% of disease alleles. PMID: 16281286
24. p.Y100C, p.R108H, p.N366S, p.V633G, p.R694W, p.R694L and p.M700K mutations are associated with a mut(-) phenotype. PMID: 17113806
25. A case report is presented of kidney transplantation in MUT. PMID: 17401587
26. Mutations in methylmalonyl-CoA mutase is associated with methylmalonic acidemia PMID: 17410422
27. Novel mutation of the MCM gene (R727X)identified in a Japanese girl causing mild presentation of methylmalonic acidemia during infancy. PMID: 17445044
28. Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. PMID: 17597648
29. Crystal structure and mutagenesis of MUT: insight into the causes of metylamalonic aciduria. PMID: 17728257
30. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. PMID: 17957493
31. early hyperammonemia can lead to significant brain damage in methylmalonic acidemia PMID: 18940555
32. Mitochondrial dysfunction in MUT is reported. PMID: 19088183

显示更多

收起更多

HGNC: 7526

OMIM: 251000

KEGG: hsa:4594

STRING: 9606.ENSP00000274813

UniGene: Hs.485527