Gene BCS1L

Also known as

BCS1, mitochondrial complex III assembly factor

Overview

BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone) encodes a mitochondrial chaperone protein essential for the assembly of complex III of the respiratory chain. This enzyme complex is critical for cellular energy production through oxidative phosphorylation in mitochondria.

Mutations in BCS1L cause several mitochondrial disorders including GRACILE syndrome (Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death) and Bjornstad syndrome (characterized by hearing loss and twisted hair). These conditions illustrate the importance of proper mitochondrial function for overall health.

Understanding BCS1L genetic status can provide insights into mitochondrial function and energy metabolism. Individuals with BCS1L variants may benefit from supporting mitochondrial health through targeted nutritional interventions including CoQ10 and other mitochondrial cofactors.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report

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