Property Summary

NCBI Gene PubMed Count 13
PubMed Score 13.69
PubTator Score 8.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
psoriasis 1.700 2.6e-03
cystic fibrosis 1.368 8.7e-06
lung cancer 1.500 4.7e-03
lung adenocarcinoma 1.784 1.9e-05
Pick disease -1.900 2.0e-06
ovarian cancer -1.400 1.9e-05

Protein-protein Interaction (4)

Gene RIF (4)

PMID Text
24635911 we discovered a novel c.1156_1158delCAG mutation in ACAD8 in patients with isobutyryl-CoA dehydrogenase deficiency , and investigated the mutation spectrum of ACAD8.
20877624 Observational study of gene-disease association. (HuGE Navigator)
17387528 Observational study of gene-disease association. (HuGE Navigator)
12359132 first enzymatic and molecular confirmation of a deficiency of this enzyme in a patient

AA Sequence

MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQK      1 - 70
ELFPVDVMRKAAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEE     71 - 140
QRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGP    141 - 210
GPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINI    211 - 280
ASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAVALQEERKDAVAL    281 - 350
CSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE         351 - 415
//

Text Mined References (17)

PMID Year Title
24635911 2015 A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
17387528 2007 Association study of cholesterol-related genes in Alzheimer's disease.
16857760 2006 Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
15505379 2004 Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14752098 2004 Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12359132 Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
11013134 2000 Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
10524212 1999 Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family.
10235267 1999 Composite co-activator ARC mediates chromatin-directed transcriptional activation.