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23474 ETHE1

23474

ETHE1

ETHE1 persulfide dioxygenase

protein-coding

Homo sapiens

基因描述

Type Description
Definition ETHE1 persulfide dioxygenase

研究结论

Date Results Publications
2020-10-24 13:56:00 ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. 31477743
2019-08-17 10:45:00 The mitochondrial enzyme ETHE1 is a persulfide dioxygenase essential for cellular sulfide detoxification, and its deficiency causes the severe and complex inherited metabolic disorder ethylmalonic encephalopathy (EE). 30391543
2017-11-11 12:00:00 observations indicate the severe impact of ETHE1 deficiency on cellular physiology and redox state 27074420
2017-06-24 11:32:00 ETHE1 is a major enzyme regulating endogenous glutathione persulfide /GS-(S)n-H and that its activity is controlled by polysulfidation of the Cys247 residue. 27742479
2016-01-23 10:43:00 ETHE1 R163W/R163Q mutations are associated with Ethylmalonic encephalopathy. 25198162

名称对应

Type IDs
Synonymous HSCO, YF13H12
Gene
UniProtKB-ID: ETHE1_HUMAN, A0A0S2Z5B3_HUMAN, B2RCZ7_HUMAN, A0A0S2Z580_HUMAN, A0A0S2Z5N8_HUMAN
UniprotKB: O95571, A0A0S2Z5B3, B2RCZ7, A0A0S2Z580, A0A0S2Z5N8
UniParc: UPI000004ABFD, UPI0000073C7C, UPI000020256F, UPI00004DDEEF
EMBL: BC008250, KU178567, AK315346, CH471126, D83198, AC018758, KU178565, KU178566
Ensembl: ENSG00000105755
KO: hsa:23474
Nucleutide sequences
EMBL-CDS: BAA34595.2, AAG09063.1, AAH08250.1, ALQ34023.1, EAW57196.1, BAG37744.1, EAW57195.1, EAW57197.1, ALQ34024.1, ALQ34025.1
Gene_ORFName: hCG_1995670, hCG_1995670
Ensembl_TRS: ENST00000292147
Protein sequencees
Ensembl_PRO: ENSP00000292147
RefSeq: NP_001307796.1, NP_001307797.1, NP_055112.2, NP_001307798.1, XP_005258744.1
Others
UniRef100: UniRef100_O95571, UniRef100_A0A0S2Z580, UniRef100_A0A0S2Z5N8
UniRef90: UniRef90_A0A0A0MV56, UniRef90_A0A2Y9IGU9, UniRef90_O95571
UniRef50: UniRef50_A0A0A0MV56, UniRef50_A0A2Y9IGU9, UniRef50_O95571
UniGene: Hs.7486
CCDS: CCDS12622.1

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