COX7B

COX7B is a gene that encodes a subunit of the cytochrome c oxidase (COX) complex, also known as Complex IV, which is the final enzyme in the mitochondrial electron transport chain. Mutations in the COX7B gene have been associated with a rare X-linked disorder known as Microphthalmia with Linear Skin Defects Syndrome (MLS).

Function

The COX7B gene is located on the X chromosome and encodes a subunit of the cytochrome c oxidase complex. This complex is a component of the mitochondrial respiratory chain and is involved in the transfer of electrons from cytochrome c to oxygen, a process that is crucial for aerobic respiration.

Clinical Significance

Mutations in the COX7B gene have been associated with Microphthalmia with Linear Skin Defects Syndrome (MLS), a rare X-linked disorder characterized by microphthalmia (small eyes), linear skin defects, and other abnormalities. The exact mechanism by which mutations in the COX7B gene cause MLS is not fully understood, but it is thought to involve disruption of the normal function of the cytochrome c oxidase complex.

Research

Research into the COX7B gene and its associated proteins is ongoing, with a focus on understanding the molecular mechanisms underlying MLS and other mitochondrial disorders. This research may lead to new treatments for these conditions in the future.

File:COX7B gene location on human X chromosome.png

Location of the COX7B gene on the X chromosome.

See Also

• Cytochrome c oxidase
• Mitochondrial respiratory chain
• Microphthalmia with Linear Skin Defects Syndrome