Property Summary

NCBI Gene PubMed Count 22
Grant Count 13
R01 Count 13
Funding $1,910,499.75
PubMed Score 20.98
PubTator Score 23.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.700 0.000
ependymoma -1.400 0.037
glioblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -1.300 0.000
medulloblastoma, large-cell -1.500 0.000
adrenocortical carcinoma -1.523 0.000
pancreatic ductal adenocarcinoma liver m... -3.318 0.006
non-small cell lung cancer -1.051 0.000
interstitial cystitis -1.100 0.001
adult high grade glioma -1.600 0.000
Pick disease -1.400 0.000
progressive supranuclear palsy -1.300 0.020
Breast cancer -1.700 0.000
ulcerative colitis -1.100 0.001

Gene RIF (12)

PMID Text
23712021 the c.1165 A>G mutation before knowing whether the optimal screening cut-off would minimize true positives or false negatives for SBCADD associated with this mutation.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
20877624 Observational study of gene-disease association. (HuGE Navigator)
20547083 These findings confirm that SBCAD deficiency can be identified through newborn screening by acylcarnitine analysis.
20418485 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
18976975 Knockdown of acyl-CoA dehydrogenase, short/branched chain (ACADSB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells
17143180 Observational study of gene-disease association. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)
16331964 Results indicate that substrate redox activation occurs in short-chain acyl-CoA dehydrogenase leading to a large enzyme midpoint potential shift.
16331963 Results examine the mechanistic basis for dysfunction of the common variant short-chain acyl-CoA dehydrogenases and demonstrate that mutations can have a large impact on the redox properties of the enzyme.
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AA Sequence

MEGLAVRLLRGSRLLRRNFLTCLSSWKIPPHVSKSSQSEALLNITNNGIHFAPLQTFTDEEMMIKSSVKK      1 - 70
FAQEQIAPLVSTMDENSKMEKSVIQGLFQQGLMGIEVDPEYGGTGASFLSTVLVIEELAKVDASVAVFCE     71 - 140
IQNTLINTLIRKHGTEEQKATYLPQLTTEKVGSFCLSEAGAGSDSFALKTRADKEGDYYVLNGSKMWISS    141 - 210
AEHAGLFLVMANVDPTIGYKGITSFLVDRDTPGLHIGKPENKLGLRASSTCPLTFENVKVPEANILGQIG    211 - 280
HGYKYAIGSLNEGRIGIAAQMLGLAQGCFDYTIPYIKERIQFGKRLFDFQGLQHQVAHVATQLEAARLLT    281 - 350
YNAARLLEAGKPFIKEASMAKYYASEIAGQTTSKCIEWMGGVGYTKDYPVEKYFRDAKIGTIYEGASNIQ    351 - 420
LNTIAKHIDAEY                                                              421 - 432
//

Text Mined References (29)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23712021 Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20547083 2010 Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
20418485 2010 Genome-wide association study of circulating vitamin D levels.
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