SLC25A1
Chr 22ARsolute carrier family 25 member 1
Also known as: CIC, CMS23, CTP, D2L2AD, SEA, SLC20A3
The protein transports citrate across the inner mitochondrial membrane as part of the citrate-malate antiporter system. Autosomal recessive mutations cause combined D-2- and L-2-hydroxyglutaric aciduria and congenital myasthenic syndrome type 23 with presynaptic dysfunction. The pathogenic mechanism appears to involve dominant-negative effects that disrupt normal mitochondrial citrate transport.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC25A1 · 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