COX6A1

Cytochrome c oxidase subunit 6A1 (COX6A1) is a protein that in humans is encoded by the COX6A1 gene. This protein is a component of the cytochrome c oxidase complex, which is the terminal enzyme of the mitochondrial electron transport chain.

Function

Cytochrome c oxidase (COX) is an essential component of the electron transport chain, which is located in the inner mitochondrial membrane. It catalyzes the transfer of electrons from cytochrome c to molecular oxygen, a process that is coupled with the pumping of protons across the membrane, contributing to the proton gradient used by ATP synthase to generate ATP.

The COX6A1 protein is one of the nuclear-encoded subunits of the cytochrome c oxidase complex. It is involved in the regulation of the enzyme's activity and stability.

Clinical significance

Mutations in the COX6A1 gene have been associated with Charcot-Marie-Tooth disease type 4X, a form of peripheral neuropathy. This condition is characterized by progressive muscle weakness and atrophy, primarily affecting the distal muscles of the limbs.

Structure

The cytochrome c oxidase complex is composed of multiple subunits, with COX6A1 being one of the smaller subunits. The structure of the complex allows for efficient electron transfer and proton pumping, which are critical for cellular respiration.

See also

• Mitochondrial diseases
• Oxidative phosphorylation
• Electron transport chain

External links

• COX6A1 gene - NCBI
• COX6A1 protein - UniProt