Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27249
MIM: 611935
HGNC: 25221
Ensembl: ENSG00000168288
Variants:
dbSNP: 27249
ClinVar: 27249
TCGA: ENSG00000168288
COSMIC: MMADHC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000168288 | ENST00000303319 | Q9H3L0 |
| ENSG00000168288 | ENST00000422782 | F8WEC0 |
| ENSG00000168288 | ENST00000428879 | Q9H3L0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28939051 | 2019 | Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases. | 2 |
| 28939051 | 2019 | Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases. | 2 |
| 27771510 | 2017 | Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. | 10 |
| 27771510 | 2017 | Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC. | 10 |
| 26364851 | 2015 | Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. | 12 |
| 26483544 | 2015 | Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. | 19 |
| 26364851 | 2015 | Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. | 12 |
| 26483544 | 2015 | Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. | 19 |
| 24722857 | 2014 | Characterization of functional domains of the cblD (MMADHC) gene product. | 8 |
| 24722857 | 2014 | Characterization of functional domains of the cblD (MMADHC) gene product. | 8 |
| 23270877 | 2013 | Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. | 14 |
| 23270877 | 2013 | Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. | 14 |
| 22156578 | 2012 | Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. | 19 |
| 22832074 | 2012 | Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism. | 13 |
| 22156578 | 2012 | Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. | 19 |
Citation
Dessen P
MMADHC (metabolism of cobalamin associated D)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47505/mmadhc
