Type | Description |
---|---|
Definition | mitochondrial methionyl-tRNA formyltransferase |
Date | Results | Publications |
---|---|---|
2020-12-12 13:23:00 | MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection. | 32636430 |
2015-02-14 14:06:00 | 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 |
2015-02-14 11:50:00 | We provide detailed clinical descriptions on eleven MTFMT patients and review five previously reported cases | 24461907 |
2014-10-20 09:53:00 | 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. | 25288793 |
2012-01-21 11:24:00 | Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. | 21907147 |
Type | IDs |
---|---|
Synonymous | COXPD15, FMT1, MC1DN27 |
Gene |
UniProtKB-ID:
FMT_HUMAN
UniprotKB:
Q96DP5
UniParc:
UPI00019151A1,
UPI000003B018
EMBL:
AK301390,
BC033687,
AC103691,
AC013553,
BC016630,
AK055688
Ensembl:
ENSG00000103707
KO:
hsa:123263
|
Nucleutide sequences |
EMBL-CDS:
BAH13470.1,
AAH33687.1,
AAH16630.2,
BAB70984.1
Ensembl_TRS:
ENST00000220058,
ENST00000543678,
ENST00000558460
|
Protein sequencees |
Ensembl_PRO:
ENSP00000452646,
ENSP00000220058,
ENSP00000443754
RefSeq:
XP_005254215.2,
NP_640335.2
|
Others |
UniRef100:
UniRef100_Q96DP5
UniRef90:
UniRef90_Q96DP5
UniRef50:
UniRef50_Q96DP5
UniGene:
Hs.531615
CCDS:
CCDS45280.1
|
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