PPP1R32
The PPP1R32 Gene: A Comprehensive Guide
Description
The PPP1R32 gene, located on chromosome 19, encodes the protein phosphatase 1 regulatory subunit 32 (PPP1R32). This protein is a key component of the protein phosphatase 1 (PP1) holoenzyme, a complex that plays a crucial role in cellular signaling and metabolism. PP1R32 specifically binds to and regulates the activity of the catalytic subunit of PP1, modulating its substrate specificity and subcellular localization.
Associated Diseases
Mutations in the PPP1R32 gene have been linked to several human diseases, including:
- Glissonian cirrhosis (GLC): A rare genetic liver disease characterized by progressive fibrosis and cirrhosis in infants and young children. Mutations in PPP1R32 disrupt normal liver development and function.
- Amyotrophic lateral sclerosis (ALS): A neurodegenerative disease that affects motor neurons in the brain and spinal cord. PPP1R32 mutations have been identified in a small subset of ALS patients.
- Autism spectrum disorder (ASD): Developmental disorders that affect social and communication skills. Variations in PPP1R32 have been associated with increased risk of ASD.
- Cancer: PPP1R32 has been implicated in the development and progression of various cancers, including lung, breast, and colon cancer.
Did you Know ?
- Mutations in the PPP1R32 gene are estimated to occur in approximately 1 in every 100,000 individuals worldwide.
