Type | Description |
---|---|
Definition | electron transfer flavoprotein dehydrogenase |
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 |
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
|
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