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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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.
See Also[edit | edit source]
- Cytochrome c oxidase
- Mitochondrial respiratory chain
- Microphthalmia with Linear Skin Defects Syndrome
References[edit | edit source]
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Contributors: Prab R. Tumpati, MD