TAFAZZIN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TAFAZZIN wild-type allele is located in the vicinity of Xq28 and is approximately 10 kb in length. This allele, which encodes tafazzin protein, plays a role in phospholipid metabolism, including cardiolipin remodeling. Mutations in the gene are associated with Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis and left ventricular noncompaction.

**Synonyms:** - BTHS - Barth Syndrome Gene - CMD3A - Cardiomyopathy, Dilated 3A (X-Linked) Gene - EFE - EFE2 - Endocardial Fibroelastosis 2 Gene - G4.5 - LVNCX - TAZ - TAZ1 - Tafazzin, Phospholipid-Lysophospholipid Transacylase wt Allele - Taz1