Property Summary

NCBI Gene PubMed Count 87
Grant Count 5
R01 Count 5
Funding $349,044.4
PubMed Score 386.98
PubTator Score 610.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Synonym

Accession P11310 Q5T4U4 Q9NYF1 MCAD
Symbols MCAD
ACAD1
MCADH

Gene

PANTHER Protein Class (2)

PDB

1T9G   2A1T   1EGC   1EGD   1EGE   4P13  

 GWAS Trait (1)

Gene RIF (43)

PMID Text
26223887 The c.600-18G > A variant activates a cryptic splice site, which competes with the natural splice site.
24966162 our study demonstrates that not all mutations identified in children with abnormal NBS profiles suggestive of MCAD deficiency result in a total loss in MCAD activity and function
24718418 mutations in the ACADM gene lower the temperature threshold at which medium-chain acyl-CoA dehydrogenase deficiency loss-of-function occurs.
23829193 Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the acyl-coenzyme A dehydrogenase G985 allele, suggesting its high prevalence in this ethnic group.
23810226 This supports that c.1161A>G is a functional SNP, which leads to higher MCAD expression, perhaps due to improved splicing. This study is a proof of principle that synonymous SNPs are not neutral.
23141465 medium chain acyl-CoA dehydrogenase involve in the metabolism of phenylbutyrate.
23028790 The octanoyl-CoA oxidation rate, therefore, allows a risk assessment at birth and the identification of new ACADM genotypes associated with asymptomatic disease variants.
22683754 A novel variant in the Medium-Chain Acyl-CoA Dehydrogenase (MCAD) gene was identified in a Greek cohort of neonates with suspected MCAD deficiency.
22630369 Subjects with variant ACADM genotypes and residual MCAD enzyme activities <10% should be considered to have the same risks as patients with classical ACADM genotypes
21968293 physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of MCADH and prevented enzymatic activity loss
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AA Sequence

MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKT      1 - 70
GEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQ     71 - 140
QKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPD    141 - 210
PKAPANKAFTGFIVEADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKT    211 - 280
RPVVAAGAVGLAQRALDEATKYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRN    281 - 350
TYYASIAKAFAGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYK    351 - 420
N//

Text Mined References (96)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26223887 2015 Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416781 2015 Human METTL20 is a mitochondrial lysine methyltransferase that targets the ? subunit of electron transfer flavoprotein (ETF?) and modulates its activity.
24966162 2014 Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24718418 2014 The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24121500 2013 Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.
23829193 2014 Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
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