Species : |
Human |
Source : |
Wheat Germ |
Tag : |
Non |
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. |
Molecular Weight : |
54.560kDa inclusive of tags |
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 |
Form : |
Liquid |
Purity : |
Proprietary Purification |
Storage buffer : |
pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl |
Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
Sequences of amino acids : |
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTSEWA QAEAGPPGYPCPAGGILKLRHIWNLKLMRWTPAAADICFT KELHSHFFSLGKCVPVCRGDGVYQKGMDFILEKLNHGDWV HIFPEGIGRLIAECHLNPIILPLWHVGEPGDGDREMASGV GGLGLPLVPGCPAPPHVWPSVHCAAGMNDVLPNSPPYFPR FGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFI QEEFQHLKTQAEQLHNHLQPGR |
Sequence Similarities : |
Belongs to the taffazin family. |