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2110 ETFDH

2110

ETFDH

electron transfer flavoprotein dehydrogenase

protein-coding

Homo sapiens

基因描述

Type Description
Definition electron transfer flavoprotein dehydrogenase

研究结论

Date Results Publications
2020-08-22 15:25:00 Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency. 31418342
2020-07-18 11:22:00 the two variants of ETFDH gene identified probably underlie the pathogenesis of Glutaric acidemia type II in this family, and also enlarge ETFDH genotype-phenotype correlations spectrum. 32393189
2020-05-02 11:56:00 Low tumor expression of ETFDH was associated with a poorer overall survival in patients with hepatocellular carcinoma. 31704152
2020-03-21 10:37:00 A mutation is the most common EFTDH mutation in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency and is most prevalent in China and South-East Asia where its epidemiology correlates with the distribution and migration patterns of the southern Min population in Southern China and neighbouring countries 31852447
2019-11-02 11:07:00 Mutations of the ETFDH gene probably underlie the pathogenesis of lipid storage myopathy in this family 31598946

名称对应

Type IDs
Synonymous ETFQO, MADD
Gene
UniProtKB-ID: ETFD_HUMAN, B4DEQ0_HUMAN
UniprotKB: Q16134, B4DEQ0
UniParc: UPI000013EC48, UPI0001D3B964, UPI00017A6C06
EMBL: AK304838, S69232, AC107219, BX538129, AK293737, BC011890
Ensembl: ENSG00000171503
KO: hsa:2110
Nucleutide sequences
EMBL-CDS: CAD98030.1, BAG65581.1, AAH11890.1, AAC60628.1, BAG57161.1
Ensembl_TRS: ENST00000511912, ENST00000307738
Protein sequencees
Ensembl_PRO: ENSP00000303552, ENSP00000426638
RefSeq: NP_001268667.1, XP_024309703.1, NP_001268666.1, NP_004444.2
Others
UniRef100: UniRef100_Q16134
UniRef90: UniRef90_Q16134
UniRef50: UniRef50_Q16134
UniGene: Hs.155729
CCDS: CCDS3800.1, CCDS64090.1

全选

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