TAFAZZIN
Chr XXLRtafazzin, phospholipid-lysophospholipid transacylase
Also known as: BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1
This acyltransferase remodels cardiolipin in the mitochondrial inner membrane, which is essential for proper mitochondrial function and respiratory chain complex assembly. Mutations cause Barth syndrome, an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth delay that typically presents in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.485), reflecting its critical role in mitochondrial metabolism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TAFAZZIN · 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
External Resources
Links to major genomics databases and tools