Property Summary

NCBI Gene PubMed Count 30
PubMed Score 47.89
PubTator Score 87.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
gastric cancer 1.500 1.6e-04
hepatocellular carcinoma 1.200 1.9e-06
pancreatic cancer 1.300 3.9e-04
osteosarcoma -2.542 3.0e-06
medulloblastoma, large-cell -1.700 6.0e-06
hereditary spastic paraplegia -1.009 8.0e-03
adrenocortical carcinoma -1.471 5.6e-04
pancreatic ductal adenocarcinoma liver m... -2.088 8.7e-04
non-small cell lung cancer -1.011 9.6e-16
intraductal papillary-mucinous neoplasm ... 1.100 3.3e-02
colon cancer -1.300 6.4e-03
ulcerative colitis -2.500 1.6e-07
adult high grade glioma -1.100 1.7e-03
pancreatic carcinoma 1.300 3.9e-04
aldosterone-producing adenoma -1.248 1.4e-02
Pick disease -1.100 5.0e-04
progressive supranuclear palsy -1.300 7.2e-03
ductal carcinoma in situ -1.100 1.6e-03
invasive ductal carcinoma -1.400 5.3e-03
ovarian cancer -2.100 1.4e-10

 OMIM Phenotype (1)

 GWAS Trait (1)

Gene RIF (20)

PMID Text
27060313 Mtation c.250G>A and mutation c.353G>T in the ETFDH gene are associate with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver.
25119904 Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency.
24357026 identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence
24123825 Results show that a predicted benign ETFDH missense variationc.158A>G in exon 2 causes exon skipping and degradation of ETFDH protein in patient samples.
22611163 folding defects in the variant ETF-QO proteins and multiple acyl-CoA dehydrogenation deficiency
21347544 a significant reduced expression of ETFDH was identified in the muscle of ETFDH-deficient patients; ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation
21088898 Case Report: ETF dehydrogenase mutations resulting in mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20370797 High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy
20370797 Observational study of gene-disease association. (HuGE Navigator)
20138856 3 known (c.250G>A, c380T>A, c.524G>T) and 1 novel (c.1831G>A) ETFDH mutation were detected by high resolution melting analysis. The carrier frequency of the hotspot mutation, c.250G>A, in the Taiwanese population was found to be 1:125.
20037589 Observational study of gene-disease association. (HuGE Navigator)
19758981 lipid storage myopathy caused by ETFDH gene mutations.
19265687 Four novel mutations (3 missenses and 1 deletion) in ETFDH were found in Chinese families that presented with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
19249206 We performed mutation analysis in four Taiwanese MADD patients. Three novel ETFDH mutations were identified in four patients and all harbored the p.A84T mutation
19208393 Observational study of gene-disease association. (HuGE Navigator)
17584774 study identified ETFDH mutations in all members of a large series of patients with riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
17412732 patients had autosomal recessive mutations in ETFDH, suggesting ETFDH deficiency leads to a secondary CoQ10 deficiency; results indicate that the late-onset form of glutaric aciduria type II & the myopathic form of CoQ10 deficiency are allelic diseases
12359134 Mutations are identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes.
12049629 expression from a baculovirus vector and kinetic and spectral characteristics

AA Sequence

MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGVNMERFAEEAD      1 - 70
VVIVGAGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNT     71 - 140
PVTEDRFGILTEKYRIPVPILPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGS    141 - 210
VKGIATNDVGIQKDGAPKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWV    211 - 280
IDEKNWKPGRVDHTVGWPLDRHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIR    281 - 350
PTLEGGKRIAYGARALNEGGFQSIPKLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTS    351 - 420
ENLQSKTIGLHVTEYEDNLKNSWVWKELYSVRNIRPSCHGVLGVYGGMIYTGIFYWILRGMEPWTLKHKG    421 - 490
SDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALSGTNHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRF    491 - 560
CPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQNINWVVPEGGGGPAYNGM                 561 - 617
//

Text Mined References (38)

PMID Year Title
27060313 2016 [Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver].
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25119904 2014 [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
24816252 2014 An atlas of genetic influences on human blood metabolites.
24357026 2014 Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24123825 2014 The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
22611163 2012 Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.
21347544 2011 Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.
21269460 2011 Initial characterization of the human central proteome.
21088898 2010 Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20370797 2010 High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
20138856 2010 High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
20037589 2010 A genome-wide perspective of genetic variation in human metabolism.
19758981 2010 Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.
19265687 2009 Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
19249206 2009 ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
19208393 2009 Clinical and genetic analysis of lipid storage myopathies.
18037314 2008 Electron spin relaxation enhancement measurements of interspin distances in human, porcine, and Rhodobacter electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO).
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17584774 2007 ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
17050691 2006 Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16527485 2006 So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14640977 2004 Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase.
12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12359134 Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
12049629 2002 Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein.
8617498 1996 Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
8306995 1994 Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase.