PPP3CC
Description
The PPP3CC (protein phosphatase 3 catalytic subunit gamma) is a protein-coding gene located on chromosome 8.
PPP3CC, also known as Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform (PP2BC), is an enzyme encoded by the PPP3CC gene in humans. Calcineurin, a calmodulin-dependent protein phosphatase, is involved in a wide array of biological activities, acting as a Ca(2+)-dependent regulator of phosphorylation status. In the testis, sperm motility is thought to be regulated by cAMP-dependent phosphorylation, and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme comprises catalytic and regulatory subunits of 60 and 18 kD, respectively. At least three genes have been cloned for the catalytic subunit: calcineurin A-alpha (CALNA1), calcineurin A-beta (CALNA2), and calcineurin A-gamma (CALNA3).
PPP3CC, also known as Calcineurin A subunit gamma isoform, is a calcium-dependent, calmodulin-stimulated protein phosphatase that plays a crucial role in transmitting intracellular calcium signals. It dephosphorylates and activates transcription factor NFATC1, dephosphorylates and inactivates transcription factor ELK1, and dephosphorylates DARPP32.
PPP3CC is also known as CALNA3, CNA3, PP2Bgamma.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- Alzheimer disease
- multiple sclerosis
- ovarian cancer
- esophageal cancer
- urinary bladder cancer
- keratoconus
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 49
- spermatogenic failure 45
- spermatogenic failure 43
- spermatogenic failure 19
- spermatogenic failure 27
- spermatogenic failure 46
- spermatogenic failure 18
- spermatogenic failure 72
