ACER3
Chr 11ARalkaline ceramidase 3
Also known as: APHC, PHCA, PLDECO
The ACER3 protein is an endoplasmic reticulum and Golgi ceramidase that hydrolyzes ceramides into sphingosine and fatty acids, regulating sphingolipid metabolism critical for cellular signaling, myelination, and neuronal function. Biallelic mutations cause progressive leukodystrophy with early childhood onset, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.39), consistent with its essential role in brain sphingolipid homeostasis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
ACER3 · 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