BAAT

Description

The BAAT gene (bile acid CoA:amino acid N-acyltransferase) encodes an enzyme critical for the synthesis of bile acids, essential for fat digestion and cholesterol regulation. This enzyme catalyzes the conjugation of bile acids with glycine or taurine, making them water-soluble and facilitating their excretion. BAAT gene mutations can lead to impaired bile acid synthesis and various health problems.

Associated Diseases

• Progressive Intrahepatic Cholestasis (PFIC) Type 1
• Cerebrotendinous Xanthomatosis (CTX)
• Bile Acid Synthesis Defects

Did you know?

BAAT gene expression is regulated by the nuclear receptor FXR, which plays a key role in bile acid homeostasis.