FA2H
Chr 16ARfatty acid 2-hydroxylase
Also known as: FAAH, FAH1, FAXDC1, SCS7, SPG35
This protein catalyzes the synthesis of 2-hydroxysphingolipids in the endoplasmic reticulum, which are essential components of myelin. Mutations cause autosomal recessive spastic paraplegia 35, a leukodystrophy characterized by dysmyelination with spastic paraparesis and variable dystonia. The pathogenic mechanism involves loss of function leading to defective myelin formation and maintenance.
Definitive — sufficient evidence for diagnostic panels
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
FA2H · 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