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Aliases for ACADVL Gene

Aliases for ACADVL Gene

  • Acyl-CoA Dehydrogenase Very Long Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, Very Long Chain 2 3
  • VLCAD 3 4
  • Very Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • EC 1.3.8.9 4
  • ACAD6 3
  • LCACD 3

External Ids for ACADVL Gene

Previous GeneCards Identifiers for ACADVL Gene

  • GC17P007521
  • GC17P007852
  • GC17P007065
  • GC17P007323
  • GC17P007294
  • GC17P007063
  • GC17P007015
  • GC17P007120
  • GC17P007218

Summaries for ACADVL Gene

Entrez Gene Summary for ACADVL Gene

  • The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACADVL Gene

ACADVL (Acyl-CoA Dehydrogenase Very Long Chain) is a Protein Coding gene. Diseases associated with ACADVL include Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of and Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD9.

UniProtKB/Swiss-Prot for ACADVL Gene

  • Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.

Additional gene information for ACADVL Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADVL Gene

Genomics for ACADVL Gene

GeneHancer (GH) Regulatory Elements for ACADVL Gene

Promoters and enhancers for ACADVL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J007213 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 +1.6 1565 10.6 HDGF FOXA2 PKNOX1 ARID4B NEUROD1 SIN3A ZNF2 YY1 ZNF766 ZNF207 DLG4 ACADVL GC17M007214 GC17P007220 ELP5 CLDN7 GPS2 PER1 LOC100996842 SLC35G6
GH17J007177 Promoter/Enhancer 1.4 Ensembl ENCODE 11.5 -39.3 -39276 1.7 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ATF7 SP3 RXRA ASGR1 GC17P007176 ENSG00000262067 LOC105371508 SPEM1 SLC16A11 ACADVL DLG4 SLC16A13 CTDNEP1
GH17J007171 Enhancer 1.1 Ensembl ENCODE 11.5 -43.4 -43445 4.2 FOXA2 SIN3A YBX1 GLI4 YY1 ZNF143 ZNF207 KLF7 ZNF548 KLF13 DVL2 CNTROB WRAP53 CYB5D1 NEURL4 NLGN2 SENP3 LOC100996842 SNORD10 ELP5
GH17J007170 Enhancer 0.5 Ensembl 11.5 -46.0 -46024 0.6 GATAD2A NFIL3 HLF CEBPG SLC16A11 ACADVL DLG4 SLC16A13 CTDNEP1 ELP5 DVL2 PHF23 GABARAP MIR324
GH17J007169 Enhancer 0.2 Ensembl 11.5 -47.1 -47124 0.8 SLC16A11 ACADVL DLG4 SLC16A13 CLEC10A CTDNEP1 ELP5 DVL2 PHF23 GABARAP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACADVL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACADVL gene promoter:
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha

Genomic Locations for ACADVL Gene

Genomic Locations for ACADVL Gene
chr17:7,217,125-7,225,273
(GRCh38/hg38)
Size:
8,149 bases
Orientation:
Plus strand
chr17:7,120,444-7,128,592
(GRCh37/hg19)
Size:
8,149 bases
Orientation:
Plus strand

Genomic View for ACADVL Gene

Genes around ACADVL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADVL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADVL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADVL Gene

Proteins for ACADVL Gene

  • Protein details for ACADVL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49748-ACADV_HUMAN
    Recommended name:
    Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P49748
    Secondary Accessions:
    • B4DEB6
    • F5H2A9
    • O76056
    • Q8WUL0

    Protein attributes for ACADVL Gene

    Size:
    655 amino acids
    Molecular mass:
    70390 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

    Three dimensional structures from OCA and Proteopedia for ACADVL Gene

    Alternative splice isoforms for ACADVL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADVL Gene

Post-translational modifications for ACADVL Gene

  • S-nitrosylation at Cys-237 in liver improves catalytic efficiency.
  • Ubiquitination at Lys507
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACADVL Gene

Domains & Families for ACADVL Gene

Gene Families for ACADVL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P49748

UniProtKB/Swiss-Prot:

ACADV_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADVL: view

Function for ACADVL Gene

Molecular function for ACADVL Gene

UniProtKB/Swiss-Prot Function:
Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.
UniProtKB/Swiss-Prot CatalyticActivity:
A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,very long chain,mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACADVL Gene

Phenotypes From GWAS Catalog for ACADVL Gene

Gene Ontology (GO) - Molecular Function for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0003995 acyl-CoA dehydrogenase activity TAS,IEA --
GO:0004466 long-chain-acyl-CoA dehydrogenase activity IDA,TAS 7668252
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with ACADVL: view
genes like me logo Genes that share phenotypes with ACADVL: view

Human Phenotype Ontology for ACADVL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACADVL Gene

MGI Knock Outs for ACADVL:

Animal Model Products

miRNA for ACADVL Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ACADVL Gene

Localization for ACADVL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADVL Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADVL gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
peroxisome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (2)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion ISS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACADVL: view

Pathways & Interactions for ACADVL Gene

genes like me logo Genes that share pathways with ACADVL: view

UniProtKB/Swiss-Prot P49748-ACADV_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis ISS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACADVL: view

No data available for SIGNOR curated interactions for ACADVL Gene

Drugs & Compounds for ACADVL Gene

(7) Drugs for ACADVL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(38) Additional Compounds for ACADVL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACADVL: view

Transcripts for ACADVL Gene

Unigene Clusters for ACADVL Gene

Acyl-CoA dehydrogenase, very long chain:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACADVL Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g · 2h ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10a ·
SP1: - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - - - - -
SP6:
SP7: - - - - - - - - - - - -
SP8:
SP9: - - - -
SP10: - - -
SP11:
SP12:
SP13: - - - -
SP14: - - - - - - - - -
SP15: - - - -
SP16:
SP17:
SP18: - -
SP19: - - -
SP20: - -
SP21:
SP22: - - - - - - - - - - - - -
SP23: - -
SP24: - - - - - - - - -
SP25: - -
SP26:
SP27:
SP28: - - -
SP29: - -
SP30: - -
SP31: - -
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:
SP38: -
SP39:
SP40:

ExUns: 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b · 18c · 18d · 18e ^ 19a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - -
SP5: - - - - - - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10: - - - - - -
SP11: - - - - -
SP12: -
SP13: - - - - -
SP14: - - -
SP15: - - -
SP16: - - - - - - - -
SP17:
SP18:
SP19: - - - - - -
SP20: - - - - -
SP21:
SP22: - - -
SP23:
SP24: - - -
SP25: - - -
SP26: -
SP27: -
SP28:
SP29:
SP30:
SP31: - - -
SP32:
SP33: - - - -
SP34: -
SP35:
SP36:
SP37:
SP38:
SP39:
SP40:

ExUns: 19b ^ 20a · 20b ^ 21a · 21b · 21c ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b · 26c · 26d · 26e ^ 27a · 27b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7:
SP8: - - - -
SP9:
SP10:
SP11: - - - -
SP12: - - - -
SP13:
SP14:
SP15:
SP16: - -
SP17: - - - - -
SP18:
SP19:
SP20:
SP21: - - - - -
SP22:
SP23:
SP24:
SP25:
SP26: - - -
SP27: - - - -
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:
SP35:
SP36:
SP37:
SP38:
SP39:
SP40:

Relevant External Links for ACADVL Gene

GeneLoc Exon Structure for
ACADVL
ECgene alternative splicing isoforms for
ACADVL

Expression for ACADVL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACADVL Gene

Protein differential expression in normal tissues from HIPED for ACADVL Gene

This gene is overexpressed in Heart (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACADVL Gene



Protein tissue co-expression partners for ACADVL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACADVL Gene:

ACADVL

SOURCE GeneReport for Unigene cluster for ACADVL Gene:

Hs.437178

Evidence on tissue expression from TISSUES for ACADVL Gene

  • Nervous system(5)
  • Liver(4.9)
  • Lung(4.9)
  • Pancreas(4.8)
  • Blood(4.6)
  • Intestine(4.3)
  • Kidney(3.9)
  • Muscle(3.7)
  • Heart(3.4)
  • Skin(3.3)
  • Eye(2.8)
  • Adrenal gland(2.7)
  • Stomach(2.5)
  • Gall bladder(2.4)
  • Spleen(2.3)
  • Thyroid gland(2.3)
  • Bone marrow(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADVL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ACADVL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ACADVL Gene

Orthologs for ACADVL Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADVL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACADVL 34 33
  • 97.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACADVL 34 33
  • 89.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACADVL 34 33
  • 89.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadvl 33
  • 84.69 (n)
mouse
(Mus musculus)
Mammalia Acadvl 16 34 33
  • 84.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACADVL 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACADVL 34
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5835 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4866 33
zebrafish
(Danio rerio)
Actinopterygii acadvl 34 33
  • 67.96 (n)
OneToOne
wufb52d04 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008769 33
  • 58.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7461 34 35 33
  • 57.39 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea acdh-12 34 33
  • 52.12 (n)
OneToOne
E04F6.5 35
  • 48 (a)
C02D5.1 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.593 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.593 33
Species where no ortholog for ACADVL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACADVL Gene

ENSEMBL:
Gene Tree for ACADVL (if available)
TreeFam:
Gene Tree for ACADVL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACADVL: view image

Paralogs for ACADVL Gene

Paralogs for ACADVL Gene

(6) SIMAP similar genes for ACADVL Gene using alignment to 11 proteins:

  • ACADV_HUMAN
  • B3KPA6_HUMAN
  • G3V1M7_HUMAN
  • J3KS89_HUMAN
  • J3KSR4_HUMAN
  • J3QKU9_HUMAN
  • J3QRJ8_HUMAN
  • J9JID6_HUMAN
  • K7EJW8_HUMAN
  • K7EMF8_HUMAN
  • K7EQP4_HUMAN
genes like me logo Genes that share paralogs with ACADVL: view

Variants for ACADVL Gene

Sequence variations from dbSNP and Humsavar for ACADVL Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1057516226 likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency 7,224,820(+) CCC/CC coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1057516369 likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency 7,221,557(+) TC/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057516370 likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency 7,222,867(+) T/C splice_donor_variant
rs1057516519 likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency 7,223,823(+) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1057516686 likely-pathogenic, Very long chain acyl-CoA dehydrogenase deficiency 7,222,865(+) GG/CAC coding_sequence_variant, non_coding_transcript_variant, splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for ACADVL Gene

Variant ID Type Subtype PubMed ID
nsv952118 CNV deletion 24416366
nsv574322 CNV loss 21841781
nsv457659 CNV loss 19166990
nsv1962 CNV insertion 18451855
nsv1143846 CNV deletion 24896259
nsv1071329 CNV deletion 25765185
esv3639862 CNV loss 21293372
esv3639861 CNV loss 21293372
esv2665200 CNV deletion 23128226
esv2422288 CNV deletion 17116639

Variation tolerance for ACADVL Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.45; 64.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADVL Gene

Human Gene Mutation Database (HGMD)
ACADVL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADVL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADVL Gene

Disorders for ACADVL Gene

MalaCards: The human disease database

(15) MalaCards diseases for ACADVL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

ACADV_HUMAN
  • Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. {ECO:0000269 PubMed:10077518, ECO:0000269 PubMed:8554073, ECO:0000269 PubMed:9546340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACADVL Gene

ACADVL deficiency presenting a severe childhood form with early onset,hypertrophic cardiomyopathy(may be associated with the variant T171I of ETFA) and a high mortality;a milder childhood form with later onset, hypoketotic hypoglycemia,rare cardiomyopathy;an adult form with isolated skeletal muscle involvement,rhabdomyolysis and myoglobinuria triggered by exercise or fasting

Additional Disease Information for ACADVL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACADVL: view

Publications for ACADVL Gene

  1. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. (PMID: 9973285) Andresen BS … Gregersen N (American journal of human genetics 1999) 3 4 22 58
  2. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. (PMID: 10077518) Mathur A … Strauss AW (Circulation 1999) 3 4 22 58
  3. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (PMID: 9546340) Smelt AH … Wintzen AR (Annals of neurology 1998) 3 4 22 58
  4. Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. (PMID: 8921384) Aoyama T … Hashimoto T (Genomics 1996) 2 3 22 58
  5. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. (PMID: 8554073) Souri M … Hashimoto T (American journal of human genetics 1996) 3 4 22 58

Products for ACADVL Gene

Sources for ACADVL Gene