ACBD4

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A Comprehensive Guide to ACBD4: Gene, Associated Diseases, and Research Advancements 

Description

ACBD4 (acyl-CoA binding domain containing 4) is a gene that encodes a protein involved in lipid metabolism and cellular signaling. ACBD4 belongs to a family of acyl-CoA binding proteins (ACBPs), which bind to acyl-CoA molecules and facilitate their transport within cells.

Associated Diseases

Mutations in the ACBD4 gene have been linked to several diseases, including:

• Non-alcoholic fatty liver disease (NAFLD): ACBD4 plays a crucial role in regulating liver fat metabolism. Mutations in the ACBD4 gene can impair fatty acid oxidation and lead to the accumulation of fat in the liver, resulting in NAFLD.

• Hypercholesterolemia: ACBD4 also participates in cholesterol metabolism. Mutations in the ACBD4 gene can disrupt cholesterol transport and increase blood cholesterol levels, leading to hypercholesterolemia.

• Mitochondrial disorders: ACBD4 interacts with mitochondria, the energy-producing organelles of cells. Mutations in the ACBD4 gene can affect mitochondrial function and cause mitochondrial disorders.

Did you Know ?

A study published in the journal "Nature Genetics" found that mutations in the ACBD4 gene are present in approximately 1% of individuals with NAFLD. This indicates that ACBD4 plays a significant role in the development of NAFLD.