ABHD12
Chr 20ARabhydrolase domain containing 12, lysophospholipase
Also known as: ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2, hABHD12
The protein encoded by this gene is a lysophosphatidylserine lipase that hydrolyzes signaling lipids regulating neurological processes and also degrades the endocannabinoid 2-arachidonoylglycerol. Mutations cause PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), a multisystem neurodegenerative disorder with autosomal recessive inheritance. The gene shows relatively high tolerance to loss-of-function variants (LOEUF 0.763), suggesting complete loss of function may be required for disease manifestation.
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
ABHD12 · 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