MTFMT

Mitochondrial methionyl-tRNA formyltransferase is a is_associated_with::protein that in humans is encoded by the MTFMT is_associated_with::gene.

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. Recessive-type mutations in MTFMT have been shown to cause is_associated_with::mitochondrial disease

Model organisms
is_associated_with::Model organisms have been used in the study of MTFMT function. A conditional is_associated_with::knockout mouse line, called Mtfmttm1a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the is_associated_with::Wellcome Trust Sanger Institute.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on is_associated_with::mutant mice and two significant abnormalities were observed. During gestation is_associated_with::homozygous mutant embryos displayed lethal growth retardation and is_associated_with::oedema. In a separate study, no homozygous animals were observed at is_associated_with::weaning. The remaining tests were carried out on adult is_associated_with::heterozygous mutant animals, but no further abnormalities were seen.