PYCR1
PYCR1
The PYCR1 gene encodes the enzyme pyrroline-5-carboxylate reductase 1, which is involved in the proline biosynthesis pathway. This enzyme plays a crucial role in cellular metabolism and is essential for the synthesis of proline from pyrroline-5-carboxylate. Proline is an amino acid that is important for protein synthesis, cellular signaling, and stress responses.
Function[edit | edit source]
The PYCR1 enzyme catalyzes the conversion of pyrroline-5-carboxylate (P5C) to proline, using NAD(P)H as a cofactor. This reaction is a key step in the proline biosynthesis pathway, which is important for maintaining cellular redox balance and osmotic stress resistance. Proline also serves as a source of energy and carbon under certain conditions.
Clinical Significance[edit | edit source]
Mutations in the PYCR1 gene have been associated with a rare genetic disorder known as Cutis Laxa, Autosomal Recessive, Type 2B (ARCL2B). This condition is characterized by loose, wrinkled skin, growth retardation, and developmental delay. The disorder results from impaired proline biosynthesis, leading to defects in collagen and elastin, which are critical components of the extracellular matrix.
Structure[edit | edit source]
The PYCR1 protein is a member of the pyrroline-5-carboxylate reductase family and is localized in the mitochondria. It is composed of several domains that facilitate its enzymatic activity, including a binding site for NAD(P)H and a catalytic site for the reduction of P5C to proline.
Pathways[edit | edit source]
PYCR1 is involved in the proline biosynthesis pathway, which is part of the larger amino acid metabolism network. This pathway is interconnected with other metabolic pathways, such as the urea cycle and the citric acid cycle, highlighting the enzyme's role in maintaining metabolic homeostasis.
Research[edit | edit source]
Ongoing research is focused on understanding the broader implications of PYCR1 function in cellular metabolism and its potential role in various diseases, including cancer and metabolic disorders. Studies are also exploring the therapeutic potential of targeting PYCR1 in conditions where proline metabolism is dysregulated.
Also see[edit | edit source]
Template:Amino acid metabolism
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
