Anti-Tafazzin / TAZ antibody (ab40004)

Function

Some isoforms may be involved in cardiolipin (CL) metabolism.

Tissue specificity

High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.

Involvement in disease

Defects in TAZ are the cause of 3-methylglutaconic aciduria type 2 (MGA2) [MIM:302060]; also known as Barth syndrome. MGA2 is a severe metabolic disorder, often fatal in childhood, characterized by dilated cardiomyopathy, skeletal myopathy, short stature, neutropenia and 3-methylglutaconicaciduria.
Defects in TAZ are the cause of left ventricular non-compaction X-linked (LVNCX) [MIM:300183]. LVNC is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricular with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, the right ventricle is also affected.

Sequence similarities

Belongs to the taffazin family.

Domain

The hydrophilic domain may serve as an exposed loop interacting with other proteins.

Cellular localization

Cytoplasm and Membrane.

Alternative names

Database links