PPP3CA
Description
The PPP3CA (protein phosphatase 3 catalytic subunit alpha) is a protein-coding gene located on chromosome 4.
The PPP3CA gene in humans encodes for Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform (PP2BA), a protein involved in cellular signaling.
PPP3CA encodes a calcium-dependent, calmodulin-stimulated protein phosphatase that plays a crucial role in relaying intracellular calcium-mediated signals. It dephosphorylates and activates various proteins, including SSH1, DNM1L, NFATC1, and TFEB, contributing to a range of cellular processes. It also regulates the activity of several transcription factors and signaling pathways, including NFAT, ELK1, and MAP3K14/NIK. PPP3CA's activity is essential for normal kidney function, cell cycle homeostasis, and the development of various tissues and organs.
PPP3CA is also known as ACCIID, CALN, CALNA, CALNA1, CCN1, CNA1, DEE91, IECEE, IECEE1, PPP2B.
Associated Diseases
- Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- Developmental and epileptic encephalopathy 91
- Non-specific early-onset epileptic encephalopathy
