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. |
Applications: |
WB |
Name of antibody: |
TAZ |
Immunogen: |
Synthesized peptide derived from Internal of human TAZ. |
Full name: |
tafazzin |
Synonyms: |
EFE; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX |
SwissProt: |
Q16635 |
WB Predicted band size: |
33 kDa |
WB Positive control: |
HepG2 cells lysate |
WB Recommended dilution: |
500-3000 |