Analysis of COX20 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0883-LGZ)

Introduction

Official Full Name: cytochrome c oxidase assembly factor COX20<br />Also known as: FAM36A; MC4DN11<br />This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants.