Role of the CASZ1 transcription factor in tissue development and disease

Table 2 Potential role of CASZ1 in diseases

	Disease types	Gene expression/mutation	Proposed mechanism	Refs.
Cancers	Neuroblastoma	Down
	Hepatocellular carcinoma	Down	Regulates the MAPK/ERK pathway and MMP2/MMP9 expression, inhibiting abnormal tumor cell proliferation	[74]
	Colorectal cancer Esophageal cancer Lung adenocarcinoma Clear cell renal cell carcinoma	Down	A new prognostic indicator	[17,18,19, 75]
	Embryonal rhabdomyosarcoma	Down	RAS-MEK signaling or genetic alterations	[76]
	Glioma	Up	Regulates target gene p75NTR transcription	[20]
	Epithelial ovarian cancer	Up	Promotes the epithelial–mesenchymal transition of EOC cells	[21]
	Lung adenocarcinoma	Up	Promotes cell migration and invasion by driving ITGAV expression	[78]
Other diseases	Ventricular septal defects (VSD)	Missense mutation p. L38p	–	[22]
	Dilated cardiomyopathy (DCM)	Nonsense mutation p.K351X and c.3781del (p.(Trp1261GlyfsTer29)) frameshift mutation		[23] [25]
	Left ventricular noncompaction cardiomyopathy (LVNC)	p.Val815Profs*14 heterozygous frameshift variant		[24]
	Hypertension	Unknown	Interacts with MR and the Mi-2/NuRD complex to inhibit ENaCα and SGK expression	[81, 83]
	Osteoarthritis	Unknown	Inhibits chondrocyte apoptosis and inflammatory response	[27]
	Immune inflammation	Unknown	Orchestrates T helper (Th) cell differentiation	[87]
	Fasting plasma glucose (FPG)	DNA methylation variants	–	[88]
	Stroke	CASZ1 genetic variants (rs4845941 and rs778228)	–	[90]

ISSN: 2047-783X