MMAB Antibody

1. analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type PMID: 29197662
2. MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity PMID: 29190729
3. These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. PMID: 27716295
4. MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. PMID: 23707710
5. Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation. PMID: 21604717
6. c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR. PMID: 20556797
7. Observational study of gene-disease association. (HuGE Navigator) PMID: 20877624
8. Observational study of gene-disease association. (HuGE Navigator) PMID: 20972250
9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20571754
10. These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. PMID: 20159775
11. Observational study of gene-disease association. (HuGE Navigator) PMID: 20430392
12. Observational study of gene-disease association. (HuGE Navigator) PMID: 20160193
13. Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder PMID: 19625202
14. report the identification of ATR cDNA as well as the corresponding gene; ATR expression is altered in cell lines derived from cblB methylmalonyl aciduria patients; propose that inborn errors in the ATR gene identified here result in methylmalonyl aciduria PMID: 12514191
15. Results describe two common polymorphic variants of ATP:cob(I)alamin adenosyltransferase that are found in normal individuals, and their interactions with methionine synthase reductase. PMID: 15347655
16. Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia PMID: 17410422
17. Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. PMID: 17597648
18. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. PMID: 17957493
19. Results functionally defined the hATR active site and tentatively implicated three amino acid residues in facilitating the reduction of cob(II)alamin to cob(I)alamin which is a prerequisite to adenosylation. PMID: 18251506
20. homozygotes for the major allele (G) at MMAB_3U3527G-->C had higher LDL-cholesterol concentrations than did carriers of the minor allele (P = 0.034). PMID: 19605566
21. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 19605566
22. Observational study of gene-disease association. (HuGE Navigator) PMID: 19487539
23. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 18193043

Show More

Hide All

HGNC: 19331

OMIM: 251110

KEGG: hsa:326625

STRING: 9606.ENSP00000445920

UniGene: Hs.12106