Property Summary

NCBI Gene PubMed Count 44
Grant Count 45
R01 Count 32
Funding $9,920,818.2
PubMed Score 231.99
PubTator Score 152.86

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.500 0.008
psoriasis 1.300 0.000
osteosarcoma -1.096 0.006
astrocytoma 1.300 0.014
ovarian cancer 2.500 0.000

Gene RIF (19)

PMID Text
26385305 following variants should be considered likely pathogenic c.1273G > A (p.A425T), c.1001T > G (p.M334R), c.538G > A (p.A180T), c.640T > G (p.F214V), c.1076C > T (p.A359V), c.1019G > T (p.G340V), c.889_891delGAG (p.E297del), and c.1103A > C (p.Q368P); patients homozygous for the most common pathogenic variant, c.848T > C (p.V283A) can be expected to have a more benign clinical course
24801231 11 mutations in ACADVL gene in 7 patients, 7 reported (p.S22X, p.W427X, p.A213T, p.G222R, p.R450H, c.296-297delCA, c.1605+1G>T), 4 novel (p.S72F, p.Q100X, p.M437T, p.D466Y). p.R450H and p.D466Y (14.28%, 2/14 alleles) mutations identified in 2 alleles.
23480858 These results emphasize the importance of functional investigation of abnormal NBS or clinical testing suggestive but not diagnostic of very-long-chain acyl-CoA dehydrogenase .
23169530 These findings support the importance of considering that mutations may be present in the ACADVL gene when a significant partial deficiency is found in CPTII activity, but no mutations in the CPT2 gene can be identified.
22093928 The expressions of LCHAD gene and protein are remarkably reduced in early onset severe preeclampsia and HELLP syndrome.
21932095 Identification of 2 VLCAD mutations leads to precautions in the management of the children with VLCAD deficiency.
20952238 Analyzed potential rhabdomyolysis-susceptibility genes (RYR 1, CPT II, VLCAD and CYP 2D6) from autopsy samples of methamphetamine abusers; no obvious relationship between the genetic mutations observed in this study and rhabdomyolysis was seen.
20107901 Case Report: missense mutation within the ACADVL gene responsible for very-long-chain acyl-CoA dehydrogenase deficiency and sudden infant death.
20099975 Down regulation of ACADVL is associated with cervical squamous cell carcinoma.
20060901 Missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase is associated with inborn errors of lipid metabolism.
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AA Sequence

MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAES      1 - 70
KSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELG     71 - 140
AFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGET    141 - 210
VAAFCLTEPSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKIT    211 - 280
AFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAG    281 - 350
TMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKI    351 - 420
FGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSA    421 - 490
LKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVN    491 - 560
EQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQEL    561 - 630
YRNFKSISKALVERGGVVTSNPLGF                                                 631 - 655
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Text Mined References (50)

PMID Year Title
26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23169530 2013 Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.
22093928 2011 [Correlation between severe preeclampsia and abnormal expression of long-chain fatty acid oxidative enzyme].
21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
21492153 2011 Analysis of proteomic changes induced upon cellular differentiation of the human intestinal cell line Caco-2.
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