SCO1

Description

SCO1, short for ‘Synthesis of Cytochrome c Oxidase 1‘, encodes a crucial enzyme involved in the assembly of cytochrome c oxidase (COX). COX is the terminal enzyme in the mitochondrial electron transport chain, responsible for converting oxygen into water and generating ATP, the energy currency of cells. SCO1 acts as a chaperone, guiding the assembly of COX subunits and ensuring its proper function. Defects in SCO1 can disrupt the electron transport chain, leading to a buildup of harmful reactive oxygen species and energy depletion.

Associated Diseases

• Leigh syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Kearns-Sayre syndrome
• NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa)

Did you know?

SCO1 is a highly conserved gene, meaning its sequence is very similar across different species, highlighting its essential role in cellular function.