Tafazzin is a protein that in humans is encoded by the TAFAZZIN gene. [5] Tafazzin is highly expressed in cardiac and skeletal muscle , and functions as a phospholipid - lysophospholipid transacylase (it belongs to phospholipid:diacylglycerol acyltransferases ).

2024年12月25日 · TAFAZZIN (Tafazzin, Phospholipid-Lysophospholipid Transacylase) is a Protein Coding gene. Diseases associated with TAFAZZIN include Barth Syndrome and Dilated Cardiomyopathy. Among its related pathways are Glycerophospholipid biosynthesis and Hippo-Merlin signaling dysregulation.

Barth 综合征 （BTHS）是一种由 TAFAZZIN /Taz基因突变引起的致命遗传病，该基因编码 心磷脂 重塑所需的转酰酶。 心磷脂是一种线粒体标志性磷脂，在维持线粒体膜结构、呼吸、mtDNA生物发生和线粒体自噬中起着关键作用。 TAFAZZIN基因突变会耗尽成熟心磷脂，导致BTHS患者出现线粒体功能障碍、 扩张型心肌病 和过早死亡。 而目前，尚无针对BTHS的靶向治疗。 有研究表明，TAFAZZIN缺失会导致小鼠胚胎成纤维细胞和HeLa细胞的线粒体自噬缺陷，还会导致结构异 …

2020年8月21日 · Tafazzin is a mitochondrial enzyme that exchanges fatty acids between phospholipids by phospholipid-lysophospholipid transacylation. The reaction alters the molecular species composition and, as a result, the physical properties of lipids. In vivo, the most important substrate of tafazzin is the mit …

Tafazzin is a mitochondrial enzyme that exchanges fatty acids between phospholipids by phospholipid-lysophospholipid transacylation. The reaction alters the molecular species composition and, as a result, the physical properties of lipids. In vivo, the most important substrate of tafazzin is the mitochondria-specific lipid cardiolipin.

Tafazzin is a mitochondrial enzyme that exchanges fatty acids between phospholipids by phospholipid–lysophospholipid transacylation. The reaction alters the molecular species composition and, as a result, the physical properties of lipids. In vivo, the most important substrate of tafazzin is the mitochondria-specific lipid cardiolipin.

tafazzin, 磷脂-溶血磷脂转酰酶： 该基因编码一种在心肌和骨骼肌中高水平表达的蛋白质。 该基因的突变与许多临床疾病有关，包括 Barth 综合征、扩张型心肌病 (DCM) 、肥厚型 DCM、心内膜弹力纤维增生症和左心室致密化不全 (LVNC) 。

The TAFAZZIN gene provides instructions for producing a protein called tafazzin. Several different versions (isoforms) of the tafazzin protein are produced from the TAFAZZIN gene. Most isoforms are found in all tissues, but some are found only in certain types of cells.

2025年1月4日 · TAZ is a widely used alternative name for the transcriptional coactivator with PDZ-binding motif (WWTR1) conflicting with the official symbol for tafazzin (TAZ). [19 Jun 2012] Expression

Tafazzin, which is encoded by the TAZ gene, catalyzes transacylation to form mature cardiolipin and shows preference for the transfer of a linoleic acid (LA) group from phosphatidylcholine (PC) to monolysocardiolipin (MLCL) with influence from mitochondrial membrane curvature. The protein contains domains and motifs involved in targeting ...