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374291 NDUFS7

374291

NDUFS7

NADH:ubiquinone oxidoreductase core subunit S7

protein-coding

Homo sapiens

基因描述

Type Description
Definition NADH:ubiquinone oxidoreductase core subunit S7

研究结论

Date Results Publications
2017-01-14 10:20:00 However, similar to another family member, RdmB, it catalyzes the introduction of a hydroxyl group, in the case of NDUFAF5, into Arg-73 in the NDUFS7 subunit of human complex I 27226634
2013-09-21 12:33:00 no active role of NDUFS7 gene in schizophrenia, was found. 22935918
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 Both the amount and intrinsic activity of complex I are decreased in inherited complex I deficiency, ehich can be increased by Trolox. 18435906
2010-01-21 00:00:00 Intronic NDUFS7 gene mutation is associated with activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome 17604671

名称对应

Type IDs
Synonymous CI-20, CI-20KD, MC1DN3, MY017, PSST
Gene
UniProtKB-ID: NDUS7_HUMAN, Q6ZS38_HUMAN, Q7LD69_HUMAN
UniprotKB: O75251, Q6ZS38, Q7LD69
UniParc: UPI00001C0EB4, UPI00003E28B6, UPI000006ED2D
EMBL: AK127759, BC001715, BC005954, AC005329, AF115969, BC111517, AK222738, AK091623
Ensembl: ENSG00000115286
KO: hsa:374291
Nucleutide sequences
EMBL-CDS: AAI11518.1, BAG52394.1, AAC27669.1, AAH01715.2, AAH05954.1, BAC87117.1, AAP97240.1, BAD96458.1
Ensembl_TRS: ENST00000313408, ENST00000233627, ENST00000546283
Protein sequencees
Ensembl_PRO: ENSP00000364262, ENSP00000440348, ENSP00000233627
RefSeq: XP_016882257.2, NP_077718.3, NP_001350531.1, XP_024307267.1
Others
UniRef100: UniRef100_O75251, UniRef100_Q6ZS38
UniRef90: UniRef90_O75251, UniRef90_Q6ZS38
UniRef50: UniRef50_Q6ZS38, UniRef50_O75251
UniGene: Hs.211914
CCDS: CCDS12063.1

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