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112812 FDX2

112812

FDX2

ferredoxin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition ferredoxin 2

研究结论

Date Results Publications
2020-01-11 10:41:00 By binding zinc-free ISCU, iron drives persulfide uptake from NFS1 and allows persulfide reduction into sulfide by FDX2, thereby coordinating sulfide production with its availability to generate Fe-S clusters. FXN stimulates the whole process by accelerating persulfide transfer. This reconstitution recapitulates physiological conditions which provides a model for Fe-S cluster biosynthesis on the scaffold protein ISCU. 31395877
2019-07-20 10:14:00 The phenotype was mapped to the same homozygous missense mutation in FDX2 (c.431C > T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. 30010796
2015-02-14 12:03:00 Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy. 24281368
2013-08-03 11:06:00 unique conformational change is observed when holo hFd2 is warmed to physiological temperatures, or higher 23208207
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Synonymous FDX1L
Gene
UniProtKB-ID: FDX2_HUMAN
UniprotKB: Q6P4F2
UniParc: UPI000007229F, UPI000059D665
EMBL: AK300568, AK097022, AC011511, BC063460
Ensembl: ENSG00000267673
KO: hsa:112812
Nucleutide sequences
EMBL-CDS: BAC04929.1, BAH13303.1, AAH63460.1
Ensembl_TRS: ENST00000393708
Protein sequencees
Ensembl_PRO: ENSP00000377311
RefSeq: NP_001026904.2
Others
UniRef100: UniRef100_Q6P4F2
UniRef90: UniRef90_Q6P4F2
UniRef50: UniRef50_Q6P4F2
UniGene: Hs.654865
CCDS: CCDS32905.2

全选

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研究热度

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