Gene Gene information from NCBI Gene database.
Entrez ID 33
Gene name Acyl-CoA dehydrogenase long chain
Gene symbol ACADL
Synonyms (NCBI Gene)
ACAD4LCAD
Chromosome 2
Chromosome location 2q34
Summary The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initi
miRNA miRNA information provided by mirtarbase database.
92
miRTarBase ID miRNA Experiments Reference
MIRT022288 hsa-miR-124-3p Microarray 18668037
MIRT715136 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT715135 hsa-miR-2276-5p HITS-CLIP 19536157
MIRT715134 hsa-miR-3183 HITS-CLIP 19536157
MIRT715133 hsa-miR-4723-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PPARA Unknown 20110263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001659 Process Temperature homeostasis ISS
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0004466 Function Long-chain fatty acyl-CoA dehydrogenase activity IBA
GO:0004466 Function Long-chain fatty acyl-CoA dehydrogenase activity IDA 1945557
GO:0004466 Function Long-chain fatty acyl-CoA dehydrogenase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609576 88 ENSG00000115361
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28330
Protein name Long-chain specific acyl-CoA dehydrogenase, mitochondrial (LCAD) (EC 1.3.8.8)
Protein function Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of
PDB 8W0T , 8W0U , 8W0Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 54 165 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 169 266 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 278 427 Acyl-CoA dehydrogenase, C-terminal domain Domain
Sequence
Sequence length 430
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid degradation
Metabolic pathways
Fatty acid metabolism
PPAR signaling pathway
  Beta oxidation of myristoyl-CoA to lauroyl-CoA
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACADL-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long chain acyl-CoA dehydrogenase deficiency Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37151879 Inhibit
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GWASCAT_DG 29545352
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32953885 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 24403596 Inhibit
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia BEFREE 23933733
★☆☆☆☆
Found in Text Mining only
Kidney Failure, Chronic Kidney Failure GWASCAT_DG 29545352
★☆☆☆☆
Found in Text Mining only
Long chain acyl-CoA dehydrogenase deficiency Acyl CoA Dehydrogenase Deficiency ORPHANET_DG 10790204
★★☆☆☆
Found in Text Mining + Unknown/Other Associations