Department of Anatomy & Physiology, The University of Melbourne, Parkville, VIC, 3010, Australia.
Mamm Genome. 2023 Jun;34(2):270-275. doi: 10.1007/s00335-023-09994-z. Epub 2023 May 24.
Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse. In zebrafish, Tmem161b was identified as an essential regulator of cardiac rhythm. In mouse, Tmem161b shows conserved function in regulating cardiac rhythm but has also been shown to impact cardiac morphology. Homozygous or heterozygous missense mutations have also recently been reported for TMEM161B in patients with structural brain malformations, although its significance in the human heart remains to be determined. Across the three model organisms studied to date (fly, fish, and mouse), Tmem161b loss of function is implicated in intracellular calcium ion handling, which may explain the diverse phenotypes observed. This review summarises the current knowledge of this conserved and functionally essential protein in the context of cardiac biology.
跨膜蛋白 161b（Tmem161b）最近在多个高通量表型筛选中被鉴定出来，包括在果蝇、斑马鱼和小鼠中。在斑马鱼中，Tmem161b 被鉴定为心脏节律的必需调节剂。在小鼠中，Tmem161b 在调节心脏节律方面表现出保守的功能，但也已被证明会影响心脏形态。最近还在结构脑畸形患者中报道了 TMEM161B 的纯合或杂合错义突变，尽管其在人类心脏中的意义仍有待确定。在迄今为止研究的三个模式生物（果蝇、鱼类和小鼠）中，Tmem161b 的功能丧失与细胞内钙离子处理有关，这可能解释了观察到的多种表型。本综述总结了在心脏生物学背景下，该保守且功能必需蛋白的现有知识。
