Property Summary

NCBI Gene PubMed Count 30
Grant Count 25
R01 Count 17
Funding $4,052,640.01
PubMed Score 47.89
PubTator Score 87.92

Knowledge Summary

Patent

No data available

Expression

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
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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.
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