3-Methylglutaconic aciduria type 2: genes and variants
3-Methylglutaconic aciduria type 2 is linked to 1 analyzed protein (TAFAZZIN). 12 DNA variants are known to cause it; 105 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to 3-Methylglutaconic aciduria type 2
TAFAZZIN: Tafazzin
It remodels mitochondrial cardiolipin so the inner mitochondrial membrane can support efficient respiratory-chain organization and energy production. Loss-of-function variants cause Barth syndrome, characterized by cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and abnormal cardiolipin composition.
12 disease-causing and 105 uncertain variants in TAFAZZIN are linked to 3-Methylglutaconic aciduria type 2.
Known disease-causing variants in 3-Methylglutaconic aciduria type 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TAFAZZIN R94C | 94 | Mitochondrial intermembrane | Disease-causing (★★) |
| TAFAZZIN R94G | 94 | Mitochondrial intermembrane | Disease-causing (★★) |
| TAFAZZIN R94S | 94 | Mitochondrial intermembrane | Disease-causing (★★) |
| TAFAZZIN R94L | 94 | Mitochondrial intermembrane | Disease-causing (★★) |
| TAFAZZIN R94H | 94 | Mitochondrial intermembrane | Disease-causing (★★) |
| TAFAZZIN G186R | 186 | Mitochondrial targeting sequence | Disease-causing (★★) |
| TAFAZZIN G80R | 80 | Mitochondrial intermembrane | Disease-causing (★★) |
| TAFAZZIN C103R | 103 | Mitochondrial intermembrane | Disease-causing (★) |
| TAFAZZIN G124R | 124 | Mitochondrial intermembrane | Disease-causing (★) |
| TAFAZZIN C72F | 72 | HXXXXD motif | Disease-causing (★) |
| TAFAZZIN D74E | 74 | HXXXXD motif | Disease-causing (★) |
| TAFAZZIN F148I | 148 | Mitochondrial intermembrane | Disease-causing (★) |
Diseases related to 3-Methylglutaconic aciduria type 2
- Dilated cardiomyopathy, also linked to TAFAZZIN
Frequently asked questions
Which genes are linked to 3-Methylglutaconic aciduria type 2?
In CATVariant, 3-Methylglutaconic aciduria type 2 is linked to 1 analyzed protein: TAFAZZIN (Tafazzin).
How many genetic variants are linked to 3-Methylglutaconic aciduria type 2?
117 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 105 are of uncertain significance or have conflicting reports.
Which uncertain variants in 3-Methylglutaconic aciduria type 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center