Property Summary

NCBI Gene PubMed Count 21
Grant Count 6
R01 Count 5
Funding $671,141.52
PubMed Score 25.92
PubTator Score 18.15

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.540 0.002
psoriasis 2.000 0.000
pancreatic ductal adenocarcinoma liver m... -1.574 0.045
ovarian cancer 2.400 0.001

Gene RIF (11)

PMID Text
26483544 the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site
26364851 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
24722857 specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis
23270877 Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
22832074 The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC.
22156578 MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.
21071249 MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system).
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18385497 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
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AA Sequence

MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQ      1 - 70
RFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETY     71 - 140
FESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKE    141 - 210
ICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIF    211 - 280
TNATPDSHIMKKLSGN                                                          281 - 296
//

Text Mined References (20)

PMID Year Title
26483544 2015 Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
26364851 2015 Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
24722857 2014 Characterization of functional domains of the cblD (MMADHC) gene product.
24124411 2013 Genome-wide association study of liver enzymes in korean children.
23415655 2013 The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
23270877 2013 Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
22832074 2012 Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
22156578 2012 Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
21071249 2011 Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B?? metabolism.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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