Synaptojanin 1
Synaptojanin 1 is a protein that in humans is encoded by the SYNJ1 gene. It is a key component in the process of synaptic vesicle recycling, which is crucial for maintaining active synapses.
Function[edit | edit source]
Synaptojanin 1 is a phosphatase enzyme that dephosphorylates inositol phospholipids, which are important signaling molecules in the cell. It has two phosphatase domains: a Sac1 domain and a 5-phosphatase domain. The Sac1 domain dephosphorylates PI(4)P and PI(4,5)P2, while the 5-phosphatase domain dephosphorylates PI(4,5)P2.
The dephosphorylation of PI(4,5)P2 is a critical step in the process of synaptic vesicle recycling. This process is necessary for the reformation of synaptic vesicles after they have released their neurotransmitters into the synaptic cleft.
Clinical significance[edit | edit source]
Mutations in the SYNJ1 gene have been associated with early-onset Parkinson's disease and a form of epilepsy known as autosomal recessive juvenile Parkinson's disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
 | This protein-related article is a stub. You can help WikiMD by expanding it. |
 | 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 The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes.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
