Property Summary

NCBI Gene PubMed Count 30
PubMed Score 47.89
PubTator Score 87.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung cancer 2798 9.55220293430812E-16
ovarian cancer 8492 1.38827731094568E-10
ulcerative colitis 2087 1.59002026911372E-7
hepatocellular carcinoma 550 1.92190042529119E-6
osteosarcoma 7933 2.97789321841753E-6
medulloblastoma, large-cell 6234 5.97338360411156E-6
gastric cancer 436 1.61646900522876E-4
pancreatic carcinoma 567 3.90682025913368E-4
pancreatic cancer 2300 3.90682025913373E-4
Pick disease 1893 5.04287945030004E-4
adrenocortical carcinoma 1427 5.55600372552394E-4
pancreatic ductal adenocarcinoma liver metastasis 1795 8.66752821416745E-4
ductal carcinoma in situ 1745 0.0015932520993885
adult high grade glioma 2148 0.00169462966984217
invasive ductal carcinoma 2950 0.00526011766035637
colon cancer 1475 0.00636232731477261
progressive supranuclear palsy 674 0.00715309467967721
hereditary spastic paraplegia 313 0.00802031490088691
aldosterone-producing adenoma 664 0.0135950552762807
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0333149626530934
Disease Target Count Z-score Confidence
Amino acid metabolic disorder 5 0.0 4.0
Disease Target Count
Glutaric aciduria 2C 1

Expression

Synonym

Accession Q16134 B4E3R9 J3KND9 Q7Z347 ETF-QO
Symbols MADD
ETFQO

Gene

PANTHER Protein Class (1)

  Ortholog (15)

 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)
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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.
More...