Recombinant Human Tafazzin (TAZ), Truncated

Uniprot Id

Q16635

Target Species

Human

Target Name

TAZ

Target Full Name

Tafazzin

Target Function

Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-Catalytically inactive.; Catalytically inactive.

Target Involvement

Barth syndrome (BTHS)

Target Subcellular Location

Mitochondrion outer membrane; Peripheral membrane protein; Intermembrane side. Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.; [Isoform 1]: Mitochondrion membrane.; [Isoform 2]: Cytoplasm.; [Isoform 3]: Mitochondrion membrane.; [Isoform 5]: Mitochondrion membrane.; [Isoform 6]: Cytoplasm.; [Isoform 7]: Mitochondrion membrane.; [Isoform 8]: Cytoplasm.; [Isoform 9]: Cytoplasm.

Target Protein Families

Taffazin family

Target 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

Target Synonyms

Barth syndrome; BTHS; Cardiomyopathy dilated 3A (X linked); CMD3A; EFE; EFE2; Endocardial fibroelastosis 2; G4.5; LVNCX; Protein G4.5; Tafazzin; TAZ; TAZ protein; TAZ_HUMAN; Taz1

Target Background

This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known.