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. [provided by RefSeq, Jul 2008]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
TAZ-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
TAZ-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
TAZ-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
TAZ-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
TAZ-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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. [provided by RefSeq, Jul 2008]
Gene Symbol : TAZ
Gene Name : Tafazzin
Chromosome : CHR X: 154,411,405-154,421,725
Locus : Xq28
Alt. Genes : ZNF263
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