NBCe1

**NBCe1**

NBCe1, also known as Nicotinamide-Biotin Carboxylase 1, is an enzyme involved in the biosynthesis of biotinylated proteins. It plays a crucial role in the carboxylation of acetyl-CoA to malonyl-CoA, a key step in fatty acid synthesis and the metabolism of certain amino acids. This enzyme belongs to the family of biotin-dependent carboxylases, which are essential for maintaining cellular energy and lipid metabolism.

NBCe1 is primarily expressed in tissues with high metabolic activity, such as liver, adipose tissue, and certain types of cells in the brain. It functions within the mitochondrial matrix, where it collaborates with other enzymes to facilitate the decarboxylation of substrates. The enzyme requires biotin as a cofactor, which is a water-soluble vitamin that acts as a carrier of carboxyl groups.

Mutations in the gene encoding NBCe1 can lead to metabolic disorders, including biotin-responsive basal ganglia disease (BRBD) and other rare conditions affecting fatty acid metabolism. Diagnosis typically involves genetic testing and biochemical analysis to confirm the presence of enzyme deficiencies. Treatment often focuses on dietary adjustments and supplementation with biotin or related compounds to restore normal metabolic function.

Research into NBCe1 continues to explore its role in lipid metabolism, mitochondrial function, and potential therapeutic applications in metabolic diseases. Understanding its mechanisms may also provide insights into broader metabolic pathways and potential targets for pharmaceutical development.