Gene Gene information from NCBI Gene database.
Entrez ID 36
Gene name Acyl-CoA dehydrogenase short/branched chain
Gene symbol ACADSB
Synonyms (NCBI Gene)
2-MEBCADACAD7SBCAD
Chromosome 10
Chromosome location 10q26.13
Summary Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs58639322 C>T Pathogenic-likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs137852649 C>T Pathogenic Missense variant, coding sequence variant
rs142095937 C>G Likely-pathogenic Stop gained, coding sequence variant
rs147936696 G>A Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic Splice donor variant, intron variant
rs188094280 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
787
miRTarBase ID miRNA Experiments Reference
MIRT021463 hsa-miR-9-5p Microarray 17612493
MIRT024452 hsa-miR-215-5p Microarray 19074876
MIRT026949 hsa-miR-192-5p Microarray 19074876
MIRT030240 hsa-miR-26b-5p Microarray 19088304
MIRT722785 hsa-miR-532-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003853 Function Short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IDA 7698750, 11013134
GO:0003853 Function Short-chain 2-methyl fatty acyl-CoA dehydrogenase activity IEA
GO:0003995 Function Acyl-CoA dehydrogenase activity IBA
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600301 91 ENSG00000196177
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P45954
Protein name Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial (SBCAD) (EC 1.3.8.5) (2-methyl branched chain acyl-CoA dehydrogenase) (2-MEBCAD) (2-methylbutyryl-coenzyme A dehydrogenase) (2-methylbutyryl-CoA dehydrogenase)
Protein function Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:10832746, PubMed:11013134, PubMed:21430
PDB 2JIF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 58 170 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 173 268 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 280 428 Acyl-CoA dehydrogenase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8660691}.
Sequence
Sequence length 432
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid degradation
Valine, leucine and isoleucine degradation
Metabolic pathways
Fatty acid metabolism
  Branched-chain amino acid catabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
300
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACADSB-related disorder Likely pathogenic; Pathogenic rs761798774, rs2493665132, rs1345480688 RCV003405995
RCV003420741
RCV003419901
Deficiency of 2-methylbutyryl-CoA dehydrogenase Likely pathogenic; Pathogenic rs779015128, rs943046481, rs1564754571, rs1228768873, rs770456976, rs2133484638, rs749878139, rs387906409, rs137852649, rs188094280, rs760791287, rs2493665132, rs2493660060, rs2493648846, rs1443718162
View all (10 more)
RCV003984356
RCV001334937
RCV001378029
RCV001379688
RCV002000527
RCV002272724
RCV003077691
RCV000009777
RCV000009778
RCV000009781
RCV001172542
RCV005047561
RCV003619997
RCV003620957
RCV003620958
RCV003620173
RCV000301658
RCV003850061
RCV004018294
RCV000009779
RCV000699781
RCV000816249
RCV000822836
RCV001065913
RCV001095659
Ovarian serous cystadenocarcinoma Likely pathogenic; Pathogenic rs188094280 RCV005887407
Sarcoma Likely pathogenic; Pathogenic rs188094280 RCV005887406
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs375217368 RCV005902094
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs760423996 RCV005891768
Microcephaly Uncertain significance rs777906899 RCV001252748
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
2 Methylbutyryl CoA Dehydrogenase Deficiency Associate 20547083, 23712021
Acidosis Associate 34240183
Autism Spectrum Disorder Associate 38287090
Carcinoma Hepatocellular Associate 30176945
Carcinoma Non Small Cell Lung Associate 37527640
Carcinoma Renal Cell Associate 30793530, 37460577
Encephalitis Herpes Simplex Associate 20547083
Liver Neoplasms Associate 30176945