| The study of genes involved in methylmalonic acidaemia with homocystinuria detected a homozygous mutation (c.748C>T) in the MMADHC gene (found in the DNA of both sisters), which generates a stop codon that results in a truncated protein, provoking the disease. | Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases.
Cancho García E, Geán E, Oliver Tormo B, Torrents A, Esteban Durán E. | 02/1/2020 |
| These data show that the processing of cobalamin in cytoplasm occurs in a multiprotein complex composed of at least methionine synthase, methionine synthase reductase, MMACHC and MMADHC. | Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.
Bassila C, Ghemrawi R, Flayac J, Froese DS, Baumgartner MR, Guéant JL, Coelho D. | 03/16/2019 |
| the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site | Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW., Free PMC Article | 04/23/2016 |
| analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway | Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Yamada K, Gherasim C, Banerjee R, Koutmos M., Free PMC Article | 04/23/2016 |
| specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis | Characterization of functional domains of the cblD (MMADHC) gene product.
Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR. | 05/16/2015 |
| Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. | Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Mah W, Deme JC, Watkins D, Fung S, Janer A, Shoubridge EA, Rosenblatt DS, Coulton JW. | 07/6/2013 |
| The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC. | Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
Deme JC, Miousse IR, Plesa M, Kim JC, Hancock MA, Mah W, Rosenblatt DS, Coulton JW. | 03/30/2013 |
| MMADHC mutations are associated with methylmalonic aciduria and homocystinuria. | Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR. | 08/11/2012 |
| MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system). | Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.
Plesa M, Kim J, Paquette SG, Gagnon H, Ng-Thow-Hing C, Gibbs BF, Hancock MA, Rosenblatt DS, Coulton JW. | 10/29/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |
| mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder | Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. | 01/21/2010 |