COA7

COA7 (Coenzyme A Synthase 7) is a protein that in humans is encoded by the COA7 gene. This protein is also known as C1orf163 and is a member of the COA7 family. It is involved in the metabolic pathways of the cell and plays a crucial role in the synthesis of coenzyme A (CoA), a vital molecule in numerous biochemical reactions.

Function

COA7 is a mitochondrial protein that is necessary for the synthesis of coenzyme A in the cell. Coenzyme A is a crucial molecule that is involved in numerous biochemical reactions, including the Krebs cycle, fatty acid synthesis, and protein acetylation. Mutations in the COA7 gene can lead to a deficiency in coenzyme A, which can result in a variety of metabolic disorders.

Clinical significance

Mutations in the COA7 gene have been associated with Spinocerebellar ataxia and Leukoencephalopathy, two neurodegenerative disorders. Patients with these mutations often present with symptoms such as ataxia, spasticity, and optic atrophy. Further research is needed to fully understand the role of COA7 in these diseases and to develop potential treatments.

See also

• Coenzyme A
• Spinocerebellar ataxia
• Leukoencephalopathy

External links

• NCBI Gene
• UniProt