Property Summary

NCBI Gene PubMed Count 22
Grant Count 11
R01 Count 11
Funding $968,970.1
PubMed Score 19.25
PubTator Score 22.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.543 0.000

Gene RIF (14)

PMID Text
26826406 Case Report: neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
25721401 In cells where it is strongly expressed, ACAD9 plays a physiological role in fatty acid oxidation.
24158852 Our results underscore the importance of the ACAD9 protein in complex I assembly and suggest that the enzymatic activity is a rudiment of the duplication event.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
21057504 ACAD9 screening of 120 additional complex I-defective index cases led us to identify two additional unrelated cases and a total of five pathogenic ACAD9 alleles.
20929961 Our data support a new function for ACAD9 in complex I function, making this gene an important new candidate for patients with complex I deficiency, which could be improved by riboflavin treatment.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20816094 Data show that two closely related metabolic enzymes, ACAD9 and VLCAD, diverged at the root of the vertebrate lineage to function in two separate mitochondrial metabolic pathways and have clinical implications for the diagnosis of complex I deficiency.
18385088 Accumulation of 3-hydroxylated intermediates of long-chain fatty acids may contribute to the pathogenesis of retinopathy in MTP deficiencies.
17672918 Validated occurrence of an unusual TG 3' splice site in intron 10.
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AA Sequence

MSGCGLFLRTTAAARACRGLVVSTANRRLLRTSPPVRAFAKELFLGKIKKKEVFPFPEVSQDELNEINQF      1 - 70
LGPVEKFFTEEVDSRKIDQEGKIPDETLEKLKSLGLFGLQVPEEYGGLGFSNTMYSRLGEIISMDGSITV     71 - 140
TLAAHQAIGLKGIILAGTEEQKAKYLPKLASGEHIAAFCLTEPASGSDAASIRSRATLSEDKKHYILNGS    141 - 210
KVWITNGGLANIFTVFAKTEVVDSDGSVKDKITAFIVERDFGGVTNGKPEDKLGIRGSNTCEVHFENTKI    211 - 280
PVENILGEVGDGFKVAMNILNSGRFSMGSVVAGLLKRLIEMTAEYACTRKQFNKRLSEFGLIQEKFALMA    281 - 350
QKAYVMESMTYLTAGMLDQPGFPDCSIEAAMVKVFSSEAAWQCVSEALQILGGLGYTRDYPYERILRDTR    351 - 420
ILLIFEGTNEILRMYIALTGLQHAGRILTTRIHELKQAKVSTVMDTVGRRLRDSLGRTVDLGLTGNHGVV    421 - 490
HPSLADSANKFEENTYCFGRTVETLLLRFGKTIMEEQLVLKRVANILINLYGMTAVLSRASRSIRIGLRN    491 - 560
HDHEVLLANTFCVEAYLQNLFSLSQLDKYAPENLDEQIKKVSQQILEKRAYICAHPLDRTC             561 - 621
//

Text Mined References (30)

PMID Year Title
26826406 2016 Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25721401 2015 Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24158852 2014 ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
23996478 2014 A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.
23836383 2013 Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
23064961 2013 GWAS of dental caries patterns in the permanent dentition.
22499348 2012 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
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