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ACADVL Gene(Protein Coding)

Acyl-CoA Dehydrogenase, Very Long Chain

GCID:
GC17P007219
GIFtS:
62
Genes Participants
UDN Logo

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
  • EC 1.3.99 61
  • 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 Vlcad Deficiency and Pericardial Effusion. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Fatty acid metabolism. 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.

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

Products:

  1. Regulatory Element

Regulatory Elements for ACADVL Gene

Enhancers for ACADVL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G007171 1.2 Ensembl ENCODE 11.5 -43.4 -43445 4.2 FOXA2 ZNF133 YBX1 GLI4 ZNF207 KLF7 ZNF548 PAF1 ZNF202 ZNF662 DVL2 NLGN2 NEURL4 SNORD10 ATP1B2 SNORA48 MIR324 ZBTB4 PER1 LOC100996842
GH17G007177 1 ENCODE 11.5 -39.3 -39277 1.7 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ZNF263 SP3 SP5 SLC16A11 ACADVL DLG4 SLC16A13 CTDNEP1 ELP5 MIR324 DVL2 PHF23 GABARAP
GH17G007170 0.5 Ensembl 11.5 -46.0 -46025 0.6 GATAD2A HLF CEBPG RBFOX2 SLC16A11 ACADVL DLG4 SLC16A13 CTDNEP1 ELP5 DVL2 PHF23 GABARAP MIR324
GH17G007169 0.4 Ensembl 11.5 -47.1 -47125 0.8 RBFOX2 SLC16A11 ACADVL DLG4 SLC16A13 CLEC10A ELP5 CTDNEP1 DVL2 PHF23 GABARAP
GH17G007203 1.5 Ensembl ENCODE dbSUPER 0.4 -10.7 -10712 5.7 HDGF PKNOX1 ATF1 ZFP64 WRNIP1 SIN3A YBX1 ZNF48 YY1 GLIS2 ELP5 NLGN2 CLDN7 DVL2 CNTROB ZBTB4 SNORD10 DLG4 YBX2 EIF5A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACADVL on UCSC Golden Path with GeneCards custom track

Promoters for ACADVL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090826 175 1001 HDGF KLF17 NFXL1 GLIS2 SCRT2 RELB THAP11 ZNF263 SP3 CEBPB

Transcription factor binding sites by QIAGEN in the ACADVL gene promoter:

Genomic Location for ACADVL Gene

Chromosome:
17
Start:
7,217,125 bp from pter
End:
7,225,273 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for ACADVL Gene

Proteins for ACADVL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ACADVL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACADVL Gene

P49748:
  • TAQHEKMLCD
  • QGLKELGAFGLQVP
  • SANMDQG
  • QFATVVEAKL
  • GEAGKQLRRR
  • VLSRASRS
  • PEKKMGIKASNT
  • AAFCLTEP
  • LQYVTESMAYM
  • NEQFLLQRLAD
  • DECIQIMGGMGFMKEPGVERVLRD
  • DFQIEAAISKIF
  • NDILRLFVALQGCMDKGKEL
  • IFTVFAKT
  • ATGAVKEKITAFVVER
  • ILNNGRFGMAA
  • RFFEEVND
  • DQVFPYPSVL
  • ENVLGEVG

Post-translational modifications for ACADVL Gene

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

Other Protein References for ACADVL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ACADVL

Domains & Families for ACADVL Gene

Gene Families for ACADVL Gene

HGNC:

Protein Domains for ACADVL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACADVL Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ACADVL Gene

GENATLAS Biochemistry:
acyl-CoA dehydrogenase,very long chain,mitochondrial,fatty acid beta-oxidation
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.
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.

Enzyme Numbers (IUBMB) for ACADVL Gene

Gene Ontology (GO) - Molecular Function for ACADVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IEA,TAS --
GO:0004466 long-chain-acyl-CoA dehydrogenase activity TAS 8466512
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding 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

miRTarBase miRNAs that target ACADVL

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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,IDA --
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

Products:

  1. Drug

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

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

(39) 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
 1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
 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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ACADVL Gene

(7) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(672) Selected AceView cDNA sequences:
(39) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACADVL Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - - - - - - - - - - - - - - -
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SP14: - - - - - - - - -
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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

Products:

  1. Primer

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

mRNA expression in normal human tissues for ACADVL Gene
mRNA expression by BioGPS for ACADVL GenemRNA expression by GTEx 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, PaxDb, 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
Organs:
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

Primer Products

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 35
  • 97.7 (n)
cow
(Bos Taurus)
 Mammalia ACADVL 34 35
  • 89.97 (n)
dog
(Canis familiaris)
 Mammalia ACADVL 34 35
  • 89.06 (n)
rat
(Rattus norvegicus)
 Mammalia Acadvl 34
  • 84.69 (n)
mouse
(Mus musculus)
 Mammalia Acadvl 34 16 35
  • 84.33 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACADVL 35
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ACADVL 35
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.4866 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.5835 34
zebrafish
(Danio rerio)
 Actinopterygii acadvl 34 35
  • 67.96 (n)
wufb52d04 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008769 34
  • 58.12 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG7461 36 34 35
  • 57.39 (n)
worm
(Caenorhabditis elegans)
 Secernentea acdh-12 34 35
  • 52.12 (n)
E04F6.5 36
  • 48 (a)
C02D5.1 36
  • 29 (a)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.593 34
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)

Paralogs for ACADVL Gene

Paralogs for ACADVL Gene

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

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 Sequence Context AA Info Type
rs112406105 Pathogenic, Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] 7,223,152(+) TAATC(A/C/G)TACCC nc-transcript-variant, downstream-variant-500B, reference, missense
rs113994167 Pathogenic, Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] 7,222,272(+) TTTTG(C/T)GGTGG nc-transcript-variant, reference, missense
rs113994168 other, Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] 7,222,203(+) CTTCA(C/T)GGTCT nc-transcript-variant, reference, missense
rs113994170 other, Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] 7,224,040(+) TTCTT(C/T)GGCTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs118204014 Pathogenic, Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] 7,224,966(+) CAGCT(C/T)GGATC nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, reference, missense

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

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

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
vlcad deficiency
  • acyl-coa dehydrogenase, very long-chain, deficiency of
pericardial effusion
acyl-coa dehydrogenase, medium chain, deficiency of
  • acyl-coa dehydrogenase, medium-chain, deficiency of
carnitine palmitoyltransferase ii deficiency
  • carnitine palmitoyltransferase ii deficiency, late-onset
myoglobinuria recurrent
  • myoglobinuria, recurrent
- elite association - COSMIC cancer census association via MalaCards

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

Relevant External Links for ACADVL

Genetic Association Database (GAD)
ACADVL
Human Genome Epidemiology (HuGE) Navigator
ACADVL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACADVL
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 B.S. … Gregersen N. (Am. J. Hum. Genet. 1999) 3 4 22 64
  2. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. (PMID: 10077518) Mathur A. … Strauss A.W. (Circulation 1999) 3 4 22 64
  3. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (PMID: 9546340) Smelt A.H. … Wintzen A.R. (Ann. Neurol. 1998) 3 4 22 64
  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 64
  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. (Am. J. Hum. Genet. 1996) 3 4 22 64

Products for ACADVL Gene

Sources for ACADVL Gene

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