SLC25A20 Gene - Solute Carrier Family 25 Member 20
Mitochondrial Carnitine/Acylcarnitine Translocase (CACT) Deficiency Gene
Gene Information Card
| Symbol | SLC25A20 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 788 ncbi.nlm.nih.gov/gene/788 |
| Ensembl ID | ENSG00000125462 |
| UniProt ID | O43772 |
| OMIM ID | 212138 |
| HGNC ID | 10985 |
| Aliases | CACT, CACL, MGC26121 |
Description
The SLC25A20 gene encodes the mitochondrial carnitine/acylcarnitine translocase (CACT), a member of the mitochondrial carrier family. This protein is essential for the transport of long-chain acylcarnitines across the inner mitochondrial membrane, enabling beta-oxidation of fatty acids. Mutations in SLC25A20 cause carnitine-acylcarnitine translocase deficiency (OMIM 212138), a severe autosomal recessive disorder of fatty acid oxidation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnitine-acylcarnitine translocase deficiency | Loss-of-function mutations impair mitochondrial import of long-chain acylcarnitines, blocking fatty acid oxidation and causing energy deficiency, hypoglycemia, and cardiomyopathy. | OMIM 212138; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Skeletal muscle | 6.7 | Medium |
| Kidney | 5.1 | Low |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| K-562 | 4.8 | Myelogenous leukemia |
| HeLa | 3.1 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.199-10T>G | Splice site | Common (founder in some populations) | Loss of function; causes exon skipping and premature truncation |
| c.823C>T (p.Arg275*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.668T>C (p.Leu223Pro) | Missense | Rare | Impaired protein stability and transport activity |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to CACT deficiency.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015297 - antiporter activity | • GO:0015226 - carnitine transmembrane transporter activity |
| • GO:0015882 - carnitine transport | • GO:0005743 - mitochondrial inner membrane |
| • GO:0006635 - fatty acid beta-oxidation |
Pathways
• Fatty acid oxidation (Reactome: R-HSA-77289)
• Mitochondrial carnitine shuttle (Reactome: R-HSA-1483191)
Protein Summary
The SLC25A20 protein (UniProt O43772) is a 301-amino acid mitochondrial inner membrane carrier that exchanges cytosolic acylcarnitines for mitochondrial carnitine. It is critical for long-chain fatty acid import into the mitochondrial matrix for beta-oxidation. Defects cause severe metabolic crises in infancy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A20 Knockout HEK293 Cell Line | EDJ-KQ4186 | Human | 788 | Details Get a Quote |
| SLC25A20 Knockout A-549 Cell Line | EDJ-KQ26631 | Human | 788 | Details Get a Quote |
| SLC25A20 Knockout HCT 116 Cell Line | EDJ-KQ26632 | Human | 788 | Details Get a Quote |
| SLC25A20 Knockout HeLa Cell Line | EDJ-KQ26633 | Human | 788 | Details Get a Quote |
| SLC25A20 Knockout Huh-7 Cell Line | EDC08347 | Human | 788 | Details Get a Quote |
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