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123263 MTFMT

123263

MTFMT

mitochondrial methionyl-tRNA formyltransferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition mitochondrial methionyl-tRNA formyltransferase

研究结论

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

名称对应

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

全选

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