MTFMT
entrez
123263
canonical
uniprot
Q96DP5
canonical
ensembl
ENSG00000103707
resolver
ensp
ENSP00000220058
resolver
ensp
ENSP00000571118
resolver
genesymbol
MTFMT
resolver
genesymbol_syn
FMT
resolver
genesymbol_syn
FMT1
resolver
hgnc
HGNC:29666
resolver
uniprot
B7Z734
resolver
uniprot_entry
FMT_HUMAN
resolver
uniprot_sec
B7Z734
resolver
amino_acid_sequence
MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVREKPPWRVLFFGTDQFAREALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQSQLPVYEWPDVGSGEYDVGVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVIHTVLHGDTVTGVTIMQIRPKRFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLISVLKNLPESLSNGRQQPMEGATYAPKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQTLWMANTIKLLDLVEVNSSVLADPKLTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSVMLKKSLTATDFYNGYLHPWYQKNSQAQPSQCRFQTLRLPTKKKQKKTVAMQQCIE
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 15 (COXPD15) [MIM:614947]: An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. {ECO:0000269|PubMed:21907147, ECO:0000269|PubMed:25288793}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex I deficiency, nuclear type 27 (MC1DN27) [MIM:618248]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN27 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:22499348}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.2.9
uniprot
proteins
function
FUNCTION: Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation. {ECO:0000269|PubMed:21907147, ECO:0000269|PubMed:25288793}.
uniprot
proteins
mass_dalton
43832
uniprot
proteins
protein_family
Fmt family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
21907147
uniprot
proteins
pubmed
22499348
uniprot
proteins
pubmed
25288793
uniprot
proteins
sequence_length
389
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:O77480}.
uniprot
proteins