Gamma-butyrobetaine dioxygenase
Gamma-butyrobetaine dioxygenase (GBBD) is an enzyme that plays a crucial role in the biosynthesis of L-carnitine, a compound essential for the transport of fatty acids into mitochondria for beta-oxidation. This enzyme catalyzes the final step in the L-carnitine biosynthetic pathway, converting gamma-butyrobetaine into L-carnitine. The activity of gamma-butyrobetaine dioxygenase is critical for energy metabolism, especially in tissues that rely heavily on fatty acids as an energy source, such as the heart and skeletal muscles.
Function[edit | edit source]
Gamma-butyrobetaine dioxygenase is involved in the metabolism of fatty acids, where it catalyzes the hydroxylation of gamma-butyrobetaine to form L-carnitine. L-carnitine is essential for the transport of long-chain fatty acids from the cytosol into the mitochondria, where they undergo beta-oxidation to produce energy. This process is vital for maintaining energy homeostasis in the body, particularly during periods of fasting or exercise.
Structure[edit | edit source]
The enzyme gamma-butyrobetaine dioxygenase is a monomeric protein that requires iron (Fe2+) and ascorbic acid (vitamin C) as cofactors for its catalytic activity. The structure of GBBD includes a catalytic domain that binds the substrate, gamma-butyrobetaine, and the cofactors, facilitating the hydroxylation reaction.
Genetics[edit | edit source]
The gene encoding gamma-butyrobetaine dioxygenase is located on the human chromosome 18. Mutations in this gene can affect the enzyme's activity, leading to reduced levels of L-carnitine and potentially resulting in metabolic disorders related to impaired fatty acid oxidation.
Clinical Significance[edit | edit source]
Deficiencies in gamma-butyrobetaine dioxygenase activity can lead to a decrease in L-carnitine levels, which may result in muscle weakness, fatigue, and metabolic disorders. Additionally, the enzyme has been studied for its role in cardiovascular diseases, as L-carnitine supplementation has been suggested to have beneficial effects on heart health.
See Also[edit | edit source]
References[edit | edit source]
 | This medical article is a stub. You can help WikiMD by expanding it. |
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's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
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
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
