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The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. Additionally we are shipping MTFMT Antibodies (22) and MTFMT Kits (4) and many more products for this protein.
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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.
We provide detailed clinical descriptions on eleven MTFMT patients and review five previously reported cases
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA.
methionyl-tRNA formyltransferase, mitochondrial
, mitochondrial methionyl-tRNA formyltransferase
, methionyl-tRNA formyltransferase, mitochondrial-like