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4724 NDUFS4

4724

NDUFS4

NADH:ubiquinone oxidoreductase subunit S4

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase subunit S4

研究结论

Date Results Publications
2020-10-31 13:19:00 NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. 32335026
2020-05-02 12:28:00 BAP31 interacts with mitochondria-localized proteins, including Tom40, to stimulate the translocation of NDUFS4, the component of complex I from the cytosol to the mitochondria. 31206022
2017-10-21 12:29:00 The clinical presentations of five individuals of Hutterite descent with Leigh disease are described herein. An identity-by-descent mapping and candidate gene approach was used to identify a novel homozygous c.393dupA frameshift mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (NDUFS4) gene. 27671926
2017-05-13 22:35:00 The authors concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. 27079373
2015-01-24 12:38:00 The c.462delA deletion led to a complete lack of NDUFS4 peptide in isolated mitochondria, and this deficiency caused an inefficient mitochondrial complex I assembly and Leigh syndrome symptoms. 24020637

名称对应

Type IDs
Synonymous AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1
Gene
UniProtKB-ID: NDUS4_HUMAN, A0A0S2Z433_HUMAN
UniprotKB: O43181, A0A0S2Z433
UniParc: UPI0000130A98
EMBL: KU178226, CH471123, BC005270, AF020351
Ensembl: ENSG00000164258
KO: hsa:4724
Nucleutide sequences
EMBL-CDS: AAB87865.1, AAH05270.1, EAW54884.1, ALQ33684.1
Gene_ORFName: hCG_39566
Ensembl_TRS: ENST00000296684
Protein sequencees
Ensembl_PRO: ENSP00000296684
RefSeq: XP_016864980.1, NP_002486.1, NP_001304980.1
Others
UniRef100: UniRef100_O43181
UniRef90: UniRef90_O43181
UniRef50: UniRef50_O43181
UniGene: Hs.528222
CCDS: CCDS3960.1

全选

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