Peptide Sequence: MPLHVKWPFP AVPPLTWTLA SSVVMGLVGT YSCFWTSEWA QAEAGPPGYP CPAGGILKLR HIWNLKLMRW TPAAADICFT KELHSHFFSL GKCVPVCRGD GVYQKGMDFI LEKLNHGDWV HIFPEGIGRL IAECHLNPII LPLWHVGEPG DGDREMASGV GGLGLPLVPG CPAPPHVWPS VHCAAGMNDV LPNSPPYFPR FGQKITVLIG KPFSALPVLE RLRAENKSAV EMRKALTDFI QEEFQHLKTQ AEQLHNHLQP GR
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, hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction. 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Barth syndrome); cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; FLJ27390; HGNC:11577; OTTHUMP00000061673; Protein G4.5; Tafazzin; tafazzin (cardiomyopathy, dilated 3A (X-linked); tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome); XX-FW83563B9.3
Gene Aliases: BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ; Taz1
UniProt ID: (Human) Q16635