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TAFAZZIN - tafazzin, phospholipid-lysophospholipid transacylase
- Synonym(s) : Barth syndrome, BTHS, G4.5, TAZ1, transcriptional coactivator with PDZ-binding motif, XAP-2
- Previous symbols and names : CMD3A, EFE, EFE2, TAZ, cardiomyopathy, dilated 3A (X-linked), endocardial fibroelastosis 2, tafazzin
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 300394
- HGNC: 11577
- UniProtKB: Q16635
- Genatlas: TAZ
- GenCC: TAZ
- Ensembl: ENSG00000102125
- IUPHAR-DB: -
- Reactome: Q16635
- LOVD: TAFAZZIN
Diseases list
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 
- Disease-causing germline mutation(s) (loss of function) in Barth syndrome
ORPHA:111
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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