SLC25A20 (O43772) variants and mutations

SLC25A20 (also known as O43772) is a human protein-coding gene encoding a 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. This analysis covers 529 SLC25A20 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes carnitine-acylcarnitine translocase deficiency, hereditary disease, and Abnormality of the skeletal system. Example SLC25A20 variants include M1V, A2V, and D3N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SLC25A20 variants

Examples include M1V, A2V, D3N, Q4*, Q4E, Q4K, Q4P, P5A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.