SLC33A1
Chr 3ARADsolute carrier family 33 member 1
Also known as: ACATN, AT-1, AT1, CCHLND, HPBDS, SPG42
This protein is an acetyl-CoA transporter that imports acetyl-CoA into the endoplasmic reticulum for protein acetylation and is necessary for O-acetylation of gangliosides. Mutations cause Huppke-Brendel syndrome (autosomal recessive) and spastic paraplegia 42 (autosomal dominant), affecting the nervous system with spasticity as a key feature. The gene shows low constraint to loss-of-function variation (pLI 0.0001, LOEUF 0.807).
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLC33A1 · 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