TAFAZZIN

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]

本基因编码的蛋白质在心脏和骨骼肌中表达水平较高。该基因的突变与多种临床疾病相关，包括巴特综合征、扩张型心肌病（DCM）、肥厚型DCM、心内膜纤维弹性组织增生症以及左心室非紧凑性（LVNC）。已描述多种转录变体，它们编码不同的异构体；每种异构体均有长型和短型两种形式；短型缺乏疏水性引导序列，可能作为细胞质蛋白而非膜结合蛋白存在。此外，还描述了其他选择性剪接的转录本，但所有这些转录本的全长性质尚不清楚。[由RefSeq提供，2008年7月]