ACSBG1: Acyl-CoA Synthetase Bubblegum Family Member 1
Key enzyme in very long-chain fatty acid metabolism and peroxisomal function
Gene Information Card
| Symbol | ACSBG1 |
|---|---|
| Full Name | Acyl-CoA Synthetase Bubblegum Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 23205 ncbi.nlm.nih.gov/gene/23205 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q96GR2 |
| OMIM ID | 614362 |
| HGNC ID | 24013 |
| Aliases | BG1, BGM, BG, FLJ10156, MGC131971 |
Description
ACSBG1 encodes a member of the acyl-CoA synthetase family that activates very long-chain fatty acids (VLCFAs) by converting them to acyl-CoAs. This enzyme is critical for VLCFA degradation in peroxisomes and for incorporation into complex lipids. Mutations in ACSBG1 are associated with X-linked adrenoleukodystrophy (ALD)-like phenotypes and other peroxisomal disorders. The protein is highly expressed in brain, adrenal glands, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked adrenoleukodystrophy (ALD) | Impaired VLCFA activation leads to accumulation of VLCFAs in tissues, causing demyelination and adrenal insufficiency. | ClinVar, OMIM |
| Peroxisomal acyl-CoA oxidase deficiency | Deficient ACSBG1 activity reduces peroxisomal beta-oxidation of VLCFAs. | OMIM |
| Hereditary spastic paraplegia (HSP) | VLCFA accumulation due to ACSBG1 mutations may contribute to axonal degeneration. | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adrenal gland | 18.3 | High |
| Testis | 15.1 | High |
| Liver | 6.2 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.2 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 5.1 | Hepatic expression |
| HeLa (cervical carcinoma) | 3.8 | Low expression |
| A549 (lung carcinoma) | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1520C>T (p.Pro507Leu) | Missense | 0.001% | Reduced enzyme activity; associated with ALD-like phenotype |
| c.214G>A (p.Gly72Arg) | Missense | 0.0005% | Loss of function; impaired VLCFA activation |
| c.1018_1020del (p.Leu340del) | In-frame deletion | 0.0002% | Altered substrate binding; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gly72Arg) reduce or abolish acyl-CoA synthetase activity, leading to VLCFA accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported in ACSBG1.
Dominant Negative (DN)
In-frame deletion p.Leu340del may interfere with dimerization, reducing wild-type enzyme function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003987 - acetate-CoA ligase activity | • GO:0006631 - fatty acid metabolic process |
| • GO:0005777 - peroxisome | • GO:0016874 - ligase activity |
| • GO:0033540 - very long-chain fatty acid metabolic process |
Pathways
• Peroxisomal beta-oxidation of VLCFAs (Reactome: R-HSA-77289)
• Fatty acid activation (KEGG: hsa00071)
Protein Summary
ACSBG1 is a 689-amino acid peroxisomal membrane protein that catalyzes the ATP-dependent conversion of very long-chain fatty acids (C22:0, C24:0, C26:0) to their acyl-CoA derivatives. This activation is essential for subsequent beta-oxidation in peroxisomes. The protein contains an AMP-binding domain and a fatty acyl-CoA synthetase signature motif. Defects in ACSBG1 disrupt VLCFA homeostasis, leading to neurological and adrenal pathologies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACSBG1 Knockout HEK293 Cell Line | EDJ-KQ7883 | Human | 23205 | Details Get a Quote |
| ACSBG1 Knockout HCT 116 Cell Line | EDJ-KQ33474 | Human | 23205 | Details Get a Quote |
| ACSBG1 Knockout HeLa Cell Line | EDJ-KQ55704 | Human | 23205 | Details Get a Quote |
| ACSBG1 Knockout A-549 Cell Line | EDJ-KQ64201 | Human | 23205 | Details Get a Quote |
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