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57001 SDHAF3

57001

SDHAF3

succinate dehydrogenase complex assembly factor 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition succinate dehydrogenase complex assembly factor 3

研究结论

Date Results Publications
2018-06-23 11:42:00 SDHAF3 interacts directly with SDHB (residue 242 being key to this interaction), and that a variant in SDHAF3 (c.157 T > C [p.Phe53Leu]) may be more prevalent in individuals with familial and sporadic pheochromocytoma and paraganglioma, and is hypomorphic via impaired interaction with SDHB. 28738844
2015-12-19 11:19:00 Single nucleotide polymorphism in ACN9 gene is associated with alcohol dependence. 25821040
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-09-15 22:06:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 19913121

名称对应

Type IDs
Synonymous ACN9, DC11, LYRM10, Sdh7
Gene
UniProtKB-ID: SDHF3_HUMAN
UniprotKB: Q9NRP4
UniParc: UPI000007346E
EMBL: CH236949, AC073421, CH471091, BC020621, BC022858, AC073900, AF201933
Ensembl: ENSG00000196636
KO: hsa:57001
Nucleutide sequences
EMBL-CDS: EAW76740.1, AAS07570.1, AAH20621.1, AAF86869.1, AAH22858.1, EAL24120.1
Gene_ORFName: DC11
Ensembl_TRS: ENST00000432641
Protein sequencees
Ensembl_PRO: ENSP00000414066
RefSeq: NP_064571.1
Others
UniRef100: UniRef100_Q9NRP4
UniRef90: UniRef90_Q9NRP4
UniRef50: UniRef50_Q9NRP4
UniGene: Hs.592269
CCDS: CCDS5648.1

全选

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研究热度

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