ACADSB: Short/Branched Chain Acyl-CoA Dehydrogenase
Key enzyme in mitochondrial fatty acid and branched-chain amino acid metabolism
Gene Information Card
| Symbol | ACADSB |
|---|---|
| Full Name | Acyl-CoA Dehydrogenase, Short/Branched Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 36 ncbi.nlm.nih.gov/gene/36 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | Q9H845 |
| OMIM ID | 600301 |
| HGNC ID | 91 |
| Aliases | SBCAD, 2-MEBCAD, ACAD7 |
Description
The ACADSB gene encodes the short/branched chain acyl-CoA dehydrogenase (SBCAD), a mitochondrial enzyme involved in the catabolism of branched-chain amino acids (isoleucine, valine) and short-chain fatty acids. It catalyzes the alpha,beta-dehydrogenation of acyl-CoA derivatives, specifically 2-methylbutyryl-CoA (from isoleucine) and isobutyryl-CoA (from valine). Deficiency leads to 2-methylbutyryl glycinuria (OMIM #610006), a disorder of isoleucine metabolism with variable clinical severity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 2-Methylbutyryl Glycinuria (ACADSB deficiency) | Loss of SBCAD enzyme activity impairs isoleucine catabolism, leading to accumulation of 2-methylbutyryl-CoA and its glycine conjugate. | ClinVar, OMIM #610006 |
| Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) | ACADSB mutations can mimic SCAD deficiency due to overlapping substrate specificity. | NCBI Gene, ClinVar |
| Encephalopathy, acute neonatal | Severe ACADSB deficiency may present with metabolic crisis, hypotonia, and developmental delay. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Heart | 6.5 | Low |
| Skeletal Muscle | 4.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| K562 | 2.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1165A>G (p.Thr389Ala) | Missense | 0.01% (gnomAD) | Reduced enzyme activity; associated with 2-methylbutyryl glycinuria |
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Loss of function; pathogenic in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of translation; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most ACADSB disease-associated mutations are loss-of-function, reducing or abolishing enzyme activity, leading to substrate accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA dehydrogenase activity | • GO:0050660 - flavin adenine dinucleotide binding |
| • GO:0005739 - mitochondrion | • GO:0006552 - isoleucine catabolic process |
| • GO:0006573 - valine catabolic process | • GO:0033539 - fatty acid beta-oxidation |
Pathways
• Valine
• leucine and isoleucine degradation (KEGG: hsa00280)
• Fatty acid degradation (KEGG: hsa00071)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The SBCAD protein (UniProt Q9H845) is a homotetrameric mitochondrial flavoenzyme of 418 amino acids. It contains a conserved acyl-CoA dehydrogenase domain and FAD-binding site. The enzyme catalyzes the third step in isoleucine and valine catabolism, converting 2-methylbutyryl-CoA to tiglyl-CoA and isobutyryl-CoA to methacrylyl-CoA, respectively. Defects cause metabolic disorder with urinary excretion of 2-methylbutyryl glycine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACADSB Knockout HEK293 Cell Line | EDJ-KQ3993 | Human | 36 | Details Get a Quote |
| ACADSB Knockout A-549 Cell Line | EDJ-KQ24966 | Human | 36 | Details Get a Quote |
| ACADSB Knockout HCT 116 Cell Line | EDJ-KQ26312 | Human | 36 | Details Get a Quote |
| ACADSB Knockout HeLa Cell Line | EDJ-KQ26313 | Human | 36 | Details Get a Quote |
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