Recombinant Human TAZ

• Cat.No.: TAZ-30938TH
• Product Overview: Recombinant full length Human Tafazzin/TAZ protein with an N terminal proprietary tag; predicted mwt: 54.56 kDa with the tag.

Specification

• 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.
• Protein length: 262 amino acids
• Molecular Weight: 54.560kDa inclusive of tags
• Source: Wheat germ
• 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.

Gene Information

• Gene Name: TAZ tafazzin [ Homo sapiens ]
• Official Symbol: TAZ
• Synonyms: TAZ; tafazzin; cardiomyopathy, dilated 3A (X linked) , CMD3A, EFE, EFE2, endocardial fibroelastosis 2; Barth syndrome; BTHS; G4.5; XAP 2
• Gene ID: 6901
• mRNA Refseq: NM_000116
• Protein Refseq: NP_000107
• MIM: 300394
• Uniprot ID: Q16635
• Chromosome Location: Xq28
• Pathway: Glycerophospholipid metabolism, organism-specific biosystem; Glycerophospholipid metabolism, conserved biosystem
• Function: 1-acylglycerophosphocholine O-acyltransferase activity; transferase activity, transferring acyl groups