关键词: CASK Diabetes Genetic mutations Nervous system Tumour

来  源:   DOI:10.1016/j.heliyon.2024.e28863   PDF(Pubmed)

Abstract:
UNASSIGNED: As a scaffold protein, calcium/calmodulin-dependent serine protein kinase (CASK) has been extensively studied in a variety of tissues throughout the body. The Cask gene is ubiquitous in several tissues, such as the neurons, islets, heart, kidneys and sperm, and is mostly localised in the cytoplasm adjacent to the basement membrane. CASK binds to a variety of proteins through its domains to exerting its biological activity.
UNASSIGNED: Here, we discuss the role of CASK in multiple tissues throughout the body. The role of different CASK domains in regulating neuronal development, neurotransmitter release and synaptic vesicle secretion was emphasised; the regulatory mechanism of CASK on the function of pancreatic islet β cells was analysed; the role of CASK in cardiac physiology, kidney and sperm development was discussed; and the role of CASK in different tumours was compared. Finally, we clarify the importance of the Cask gene in the body, and how deletion or mutation of the Cask gene can have adverse consequences.
UNASSIGNED: CASK is a conserved gene with similar roles in various tissues. The function of the Cask gene in the nervous system is mainly involved in the development of the nervous system and the release of neurotransmitters. In the endocrine system, an involvement of CASK has been reported in the process of insulin vesicle transport. CASK is also involved in cardiomyocyte ion channel regulation, kidney and sperm development, and tumour proliferation. CASK is an indispensable gene for the whole body, and CASK mutations can cause foetal malformations or death at birth. In this review, we summarise the biological functions and pathological mechanisms of CASK in various systems, thereby providing a basis for further in-depth studies of CASK functions.
摘要:
作为支架蛋白,钙/钙调蛋白依赖性丝氨酸蛋白激酶(CASK)已在整个身体的各种组织中进行了广泛的研究。Cask基因普遍存在于多种组织中,比如神经元,胰岛,心,肾脏和精子,并且主要位于基底膜附近的细胞质中。CASK通过其结构域与多种蛋白质结合以发挥其生物活性。
这里,我们讨论了CASK在全身多个组织中的作用。不同CASK结构域在调节神经元发育中的作用,强调了神经递质的释放和突触小泡的分泌;分析了CASK对胰岛β细胞功能的调节机制;讨论了肾脏和精子发育;并比较了CASK在不同肿瘤中的作用。最后,我们阐明了Cask基因在体内的重要性,以及Cask基因的缺失或突变如何产生不良后果。
CASK是一种保守基因,在各种组织中具有相似的作用。Cask基因在神经系统中的功能主要参与神经系统的发育和神经递质的释放。在内分泌系统中,据报道,CASK参与了胰岛素囊泡的运输过程。CASK还参与心肌细胞离子通道的调节,肾脏和精子发育,和肿瘤增殖。CASK是全身不可缺少的基因,CASK突变可导致胎儿畸形或出生时死亡。在这次审查中,我们总结了CASK在各种系统中的生物学功能和病理机制,从而为进一步深入研究CASK函数提供了依据。
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