PIN1P1
Pin1 Peptidyl-Prolyl Cis/Trans Isomerase Gene (PIN1)
Description:
The pin1p1 gene encodes the peptidyl-prolyl cis/trans isomerase Pin1, an enzyme that plays a crucial role in protein folding and regulation. Pin1 catalyzes the isomerization of phosphorylated Serine or Threonine residues adjacent to Proline, a specific amino acid combination. This alteration in protein conformation affects protein function, stability, and subcellular localization.
Associated Diseases:
Dysregulation of Pin1 has been implicated in several diseases, including:
- Cancer: Pin1 overexpression is associated with various cancers, such as breast, prostate, and lung cancer. It promotes cancer cell proliferation, invasion, and metastasis.
- Neurodegenerative Disorders: Mutations in the pin1p1 gene have been linked to neurodegenerative disorders like Alzheimer‘s disease and Parkinson‘s disease. Pin1 dysfunction disrupts neuronal function and contributes to the accumulation of toxic protein aggregates.
- Cardiovascular Diseases: Pin1 is involved in the development and progression of cardiovascular diseases. It regulates the expression of pro-inflammatory factors and promotes smooth muscle cell migration, contributing to plaque formation.
Did you Know ?
- Approximately 30% of human proteins contain at least one Pin1 target site. This highlights the widespread involvement of Pin1 in cellular processes.
