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: 123263
MIM: 611766
HGNC: 29666
Ensembl: ENSG00000103707
Variants:
dbSNP: 123263
ClinVar: 123263
TCGA: ENSG00000103707
COSMIC: MTFMT
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000103707 | ENST00000220058 | Q96DP5 |
| ENSG00000103707 | ENST00000543678 | Q96DP5 |
| ENSG00000103707 | ENST00000558460 | Q96DP5 |
| ENSG00000103707 | ENST00000560717 | H3BTN9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32133637 | 2020 | First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. | 0 |
| 32636430 | 2020 | MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection. | 1 |
| 32133637 | 2020 | First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. | 0 |
| 32636430 | 2020 | MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection. | 1 |
| 24461907 | 2014 | Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. | 36 |
| 25288793 | 2014 | Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. | 9 |
| 25288793 | 2014 | Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. | 9 |
| 24461907 | 2014 | Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. | 36 |
| 25288793 | 2014 | Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. | 9 |
| 25288793 | 2014 | Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. | 9 |
| 21907147 | 2011 | Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. | 76 |
| 21907147 | 2011 | Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. | 76 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
MTFMT (mitochondrial methionyl-tRNA formyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70540/mtfmt-(mitochondrial-methionyl-trna-formyltransferase)
