SLC25A20
Chr 3ARsolute carrier family 25 member 20
Also known as: CAC, CACT
The protein mediates the transport of acylcarnitines across the mitochondrial inner membrane, enabling fatty acid beta-oxidation by translocating fatty acids into the mitochondrial matrix where they can be metabolized. Mutations cause carnitine-acylcarnitine translocase deficiency, an autosomal recessive disorder presenting in newborns and infants with hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction, and muscle weakness. This condition is typically lethal in the neonatal period and affects multiple organ systems dependent on fatty acid oxidation for energy.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 19 | 2 | 11 | 0 | 32 |
Likely Pathogenic | 30 | 6 | 4 | 0 | 40 |
VUS | 1 | 76 | 11 | 1 | 89 |
Likely Benign | 0 | 1 | 66 | 64 | 131 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 4 | |||
| Total | 50 | 85 | 93 | 65 | 297 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC25A20 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools