ACADVL (acyl-CoA dehydrogenase very long chain)

2008-03-01  

Identity

HGNC
ACADVL
LOCATION
17p13.1
LOCUSID
37
ALIAS
ACAD6,LCACD,VLCAD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 37
MIM: 609575
HGNC: 92
Ensembl: ENSG00000072778

Variants:

dbSNP: 37
ClinVar: 37
TCGA: ENSG00000072778
COSMIC: ACADVL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072778ENST00000322910J9JID6
ENSG00000072778ENST00000350303P49748
ENSG00000072778ENST00000356839P49748
ENSG00000072778ENST00000542255G3V1M7
ENSG00000072778ENST00000543245P49748
ENSG00000072778ENST00000579546J3QRJ8
ENSG00000072778ENST00000579886J3QKU9
ENSG00000072778ENST00000581378J3KS89
ENSG00000072778ENST00000583312K7EQP4
ENSG00000072778ENST00000583848K7EMF8
ENSG00000072778ENST00000583858J3KSR4
ENSG00000072778ENST00000584103K7EJW8

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Fatty acid degradationKEGGhsa00071
Metabolic pathwaysKEGGhsa01100
beta-OxidationKEGGhsa_M00087
beta-OxidationKEGGM00087
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of palmitoyl-CoA to myristoyl-CoAREACTOMER-HSA-77305

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
173745012007Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.20
179993562007Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.19
200999752010Differential gene expression identified in Uigur women cervical squamous cell carcinoma by suppression subtractive hybridization.18
193279922009Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.16
234808582013Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.15
164647602005Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.14
263853052015Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.13
272096292016Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.12
219320952012VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.11

Citation

Dessen P

ACADVL (acyl-CoA dehydrogenase very long chain)

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/gene/50037/acadvl-(acyl-coa-dehydrogenase-very-long-chain)