Property Summary

NCBI Gene PubMed Count 9
Grant Count 47
R01 Count 23
Funding $18,404,717.98
PubMed Score 226.47
PubTator Score 11.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
astrocytic glioma -1.400 0.025

Gene RIF (5)

PMID Text
25288793 Data indicate that methionyl-tRNA formyltransferase (MTF) mutation initiated poor formylation of mitochondrial methionyl-tRNA and thereby reduced mitochondrial translation efficiency, causing Leigh syndrome.
25288793 Recessive mutations in MTFMT underlie defects of the mitochondrial respiratory chain, leading to multi-system disease that includes Leigh syndrome. This paper reports on the biochemical activity of such mutant alleles.
24461907 We provide detailed clinical descriptions on eleven MTFMT patients and review five previously reported cases
21907147 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAREALRALHAAR      1 - 70
ENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDVGVVASFGRLLNEALILKFPY     71 - 140
GILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPKRFDVGPILKQETVPVPPKSTAKELEAVLSR    141 - 210
LGANMLISVLKNLPESLSNGRQQPMEGATYAPKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMA    211 - 280
NTIKLLDLVEVNSSVLADPKLTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYL    281 - 350
HPWYQKNSQAQPSQCRFQTLRLPTKKKQKKTVAMQQCIE                                   351 - 389
//

Text Mined References (10)

PMID Year Title
25288793 2014 Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
24461907 2014 Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
21907147 2011 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9614118 1998 Mammalian mitochondrial methionyl-tRNA transformylase from bovine liver. Purification, characterization, and gene structure.