PPP2R4
The ppp2r4 Gene: A Comprehensive Overview
Description
The ppp2r4 gene encodes a protein called protein phosphatase 2 regulatory subunit B', alpha. This protein plays a crucial role in regulating the activity of protein phosphatase 2 (PP2A), a serine/threonine phosphatase that is involved in various cellular processes. PP2A is a key player in cell signaling, cell cycle regulation, and apoptosis.
The ppp2r4 gene is located on chromosome 9q34.11 in humans. It contains 11 exons and spans approximately 10 kb. The ppp2r4 protein is composed of 414 amino acids and has a molecular weight of approximately 46 kDa.
Associated Diseases
Mutations in the ppp2r4 gene have been linked to several human diseases, including:
- Lissencephaly: A brain malformation characterized by a smooth surface due to the absence of gyri and sulci.
- Microcephaly: A condition characterized by an unusually small head size.
- Intellectual disability: A range of cognitive impairments that can affect learning, memory, and problem-solving.
- Autism spectrum disorder: A complex developmental disorder that affects social interaction, communication, and behavior.
Did you Know ?
- Approximately 1 in every 10,000 individuals is affected by a mutation in the ppp2r4 gene.
