Table 2 The role of aberrant CYP51A1 expression in diseases.

From: CYP51A1 in health and disease: from sterol metabolism to regulated cell death

Diseases

Expression and role

Mechanism

Model

Refs.

Cancer

Upregulation; Promotion

Providing raw materials required for biofilm synthesis in cancer cells or remodeling the tumor microenvironment via the substrate lanosterol

Various cancer cell and mice

[68, 76, 77]

Cataracts

Mutation, upregulation or downregulation; Promotion

Mechanism unknown, may involve cholesterol metabolism disorder

Mice and patients

[47, 79, 80]

Antley-Bixler syndrome

Mutation or deletion; Promotion

Accumulation of endogenous substrates and lack of products

Mice

[35, 85]

Neurodegenerative disease

Upregulation; Inhibition

Increase lanosterol and delay disease progression by inducing mild mitochondrial depolarization and promoting autophagy

Cos-7 and A549 cells; mice

[87, 88]

Autoimmune disease

Upregulation; Promotion

Accumulation of endogenous substrates and lack of products

Oligodendrocyte; mice

[33, 90,91,92]

Metabolic damage diseases

Downregulation; Promotion

Cholesterol deficiency

Mice

[95]