| Species : |
Human |
| Source : |
In Vitro Cell Free System |
| Protein Length : |
262 amino acids |
| Description : |
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. |
| Form : |
Liquid |
| Molecular Mass : |
54.560kDa inclusive of tags |
| AA Sequence : |
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWA QAEAGPPGYPCPAGGILKLRHIWNLKLMRWTPAAADICFT KELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWV HIFPEGIGRLIAECHLNPIILPLWHVGEPGDGDREMASGV GGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPYFPR FGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFI QEEFQHLKTQAEQLHNHLQPGR |
| Purity : |
Proprietary Purification |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles. |
| Storage Buffer : |
pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione. |
