UCP1

Description

The UCP1 (uncoupling protein 1) is a protein-coding gene located on chromosome 4.

UCP1, a mitochondrial protein found in brown adipose tissue (BAT), plays a crucial role in generating heat through non-shivering thermogenesis. It is particularly important in infants, helping to counter heat loss due to their high surface area-to-volume ratio. UCP1 belongs to the UCP family, which are transmembrane proteins that decrease the proton gradient generated in oxidative phosphorylation. This is achieved by increasing the permeability of the inner mitochondrial membrane, allowing protons pumped into the intermembrane space to return to the mitochondrial matrix. This process dissipates the proton gradient, uncoupling the respiratory chain and allowing for rapid substrate oxidation with minimal ATP production. UCP1's activity is stimulated by fatty acids and inhibited by nucleotides. The activation process is triggered by the sympathetic nervous system, where norepinephrine released from nerve terminals binds to beta-3 adrenergic receptors on the plasma membrane. This activates adenylyl cyclase, leading to the conversion of ATP to cyclic AMP (cAMP), ultimately initiating the release of fatty acids.

UCP1 acts as a symporter, simultaneously transporting long-chain fatty acids (LCFAs) and protons across the inner mitochondrial membrane. This transport is driven by the hydrophobic interaction of LCFAs with the transporter, effectively resulting in proton transport activated by LCFAs. By dissipating the mitochondrial proton gradient, UCP1 converts energy from substrate oxidation into heat instead of ATP. It also regulates the production of reactive oxygen species (ROS) within mitochondria.

UCP1 is also known as SLC25A7, UCP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing