- accession:NM_181311
- 基因别名:TAZ
- 基因描述:Homo sapiens tafazzin (TAZ), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:789
- 翻译后氨基酸长度:262
- TranscriptVariant:This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) compared to isoform 1.
- 基因简介: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]
- 规格:10ul 质粒
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