SYNJ2BP-COX16
Description
The SYNJ2BP-COX16 (SYNJ2BP-COX16 readthrough) is a protein-coding gene located on chromosome 14.
Synj2bp-Cox16 is a protein-coding gene. Diseases associated with SYNJ2BP-COX16 include Leigh syndrome. Among its related pathways are Mitochondrial oxidative phosphorylation and Respiratory electron transport. GO annotations related to this gene include electron transport chain, cellular respiration and mitochondrial electron transport chain.
The protein encoded by this gene is a component of the mitochondrial respiratory chain complex IV, also known as cytochrome c oxidase. This complex catalyzes the final step of cellular respiration, the transfer of electrons from cytochrome c to molecular oxygen, and the coupled translocation of protons across the inner mitochondrial membrane. This process establishes a proton gradient across the membrane that is used to drive ATP synthesis. Mutations in this gene have been associated with Leigh syndrome and other mitochondrial respiratory chain disorders.
SYNJ2BP-COX16 is also known as -.
Associated Diseases
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- homozygous familial hypercholesterolemia
- hypercholesterolemia, autosomal dominant, 3
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- hypercholesterolemia, autosomal dominant, type B
