Carnitine acylcarnitine translocase deficiency: genes and variants
Carnitine acylcarnitine translocase deficiency is linked to 1 analyzed protein (SLC25A20). 9 DNA variants are known to cause it; 63 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: carnitine-acylcarnitine translocase deficiency
Genes linked to Carnitine acylcarnitine translocase deficiency
SLC25A20: Mitochondrial carnitine/acylcarnitine carrier protein
It exchanges acylcarnitines and free carnitine across the inner mitochondrial membrane, allowing long-chain fatty acids to enter the beta-oxidation pathway. Biallelic loss-of-function variants cause carnitine-acylcarnitine translocase deficiency, often with severe neonatal hypoglycemia, hyperammonemia, and cardiomyopathy.
9 disease-causing and 63 uncertain variants in SLC25A20 are linked to Carnitine acylcarnitine translocase deficiency.
Where Carnitine acylcarnitine translocase deficiency variants cluster
- SLC25A20 Solcar 3 (positions 207–293): 5 of 9 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Carnitine acylcarnitine translocase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC25A20 D231H | 231 | Solcar 3 | Disease-causing (★★) |
| SLC25A20 R133W | 133 | Solcar 2 | Disease-causing (★★) |
| SLC25A20 R275Q | 275 | Solcar 3 | Disease-causing (★★) |
| SLC25A20 A281V | 281 | Solcar 3 | Disease-causing (★★) |
| SLC25A20 R178Q | 178 | Solcar 2 | Disease-causing (★★) |
| SLC25A20 Q238R | 238 | Solcar 3 | Disease-causing (★★) |
| SLC25A20 G81R | 81 | Solcar 1 | Disease-causing (★) |
| SLC25A20 P230R | 230 | Solcar 3 | Disease-causing (★) |
| SLC25A20 M1V | 1 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Carnitine acylcarnitine translocase deficiency?
In CATVariant, Carnitine acylcarnitine translocase deficiency is linked to 1 analyzed protein: SLC25A20 (Mitochondrial carnitine/acylcarnitine carrier protein).
How many genetic variants are linked to Carnitine acylcarnitine translocase deficiency?
93 variants: 9 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 63 are of uncertain significance or have conflicting reports.
Which uncertain variants in Carnitine acylcarnitine translocase deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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