ACAD10: Acyl-CoA Dehydrogenase Family Member 10
Mitochondrial enzyme involved in fatty acid beta-oxidation and metabolic disease
Gene Information Card
| Symbol | ACAD10 |
|---|---|
| Full Name | Acyl-CoA Dehydrogenase Family Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.12 |
| NCBI Gene ID | 80724 ncbi.nlm.nih.gov/gene/80724 |
| Ensembl ID | ENSG00000111271 |
| UniProt ID | Q6JQN1 |
| OMIM ID | 611181 |
| HGNC ID | 21570 |
| Aliases | FLJ11273, MGC131851 |
Description
ACAD10 encodes a member of the acyl-CoA dehydrogenase family, which catalyzes the first step of mitochondrial fatty acid beta-oxidation. The enzyme is involved in the metabolism of medium- and long-chain fatty acids. Variants in ACAD10 have been associated with metabolic disorders and cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Impaired fatty acid oxidation due to reduced ACAD10 activity | PMID: 23451116 |
| Type 2 diabetes | Association with insulin resistance and lipid metabolism | PMID: 25673435 |
| Hepatocellular carcinoma | Altered expression linked to tumor metabolism | PMID: 31068700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.7 | Low |
| Skeletal muscle | 5.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 4.5 | Cervical cancer cells |
| A549 | 3.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246G>A (p.Gly416Arg) | Missense | 0.0012 | Reduced enzyme activity |
| c.1873C>T (p.Arg625Trp) | Missense | 0.0008 | Unknown functional impact |
| c.2140_2141del (p.Leu714fs) | Frameshift | 0.0001 | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA dehydrogenase activity | • GO:0005739 - mitochondrion |
| • GO:0055114 - oxidation-reduction process | • GO:0006635 - fatty acid beta-oxidation |
Pathways
• Fatty acid beta-oxidation (Reactome: R-HSA-77289)
• Mitochondrial fatty acid beta-oxidation (KEGG: hsa00071)
Protein Summary
ACAD10 is a mitochondrial enzyme that catalyzes the alpha,beta-dehydrogenation of acyl-CoA thioesters in fatty acid beta-oxidation. The protein contains a conserved acyl-CoA dehydrogenase domain and is expressed primarily in liver and kidney. Defects in ACAD10 are associated with metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAD10 Knockout HEK293 Cell Line | EDJ-KQ2319 | Human | 80724 | Details Get a Quote |
| ACAD10 Knockout A-549 Cell Line | EDJ-KQ22708 | Human | 80724 | Details Get a Quote |
| ACAD10 Knockout HCT 116 Cell Line | EDJ-KQ22709 | Human | 80724 | Details Get a Quote |
| ACAD10 Knockout HeLa Cell Line | EDJ-KQ22710 | Human | 80724 | Details Get a Quote |
| Acad10 Knockout B16-F10 Cell Line | EDJ-KZ521 | Mouse | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
