MPP2
Description
The MPP2 (MAGUK p55 scaffold protein 2) is a protein-coding gene located on chromosome 17.
MPP2 is a member of the MAGUK family of proteins, which are involved in cell signaling and structure. It contains an SH3 domain, which is found in other proteins that interact with the cytoskeleton and are important for signal transduction. MPP2 interacts with the cytoskeleton and helps to regulate cell proliferation, signaling pathways, and intracellular junctions.
MPP2, also known as Discs large homolog 2, acts as a scaffolding protein at synapses, connecting CADM1 cell adhesion molecules to key components of the postsynaptic density. It is essential for the function of KCNN2-containing channels and long-term potentiation in CA1 pyramidal neurons. Additionally, MPP2 appears to negatively regulate SRC activity in epithelial cells.
MPP2 is also known as DLG2.
Associated Diseases
- X-linked retinal dysplasia
- muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- choroidal dystrophy, central areolar, 1
- severe early-childhood-onset retinal dystrophy
- age related macular degeneration 11
- age related macular degeneration 7
- age related macular degeneration 4
- X-linked retinoschisis
- retinitis pigmentosa
- coloboma of optic nerve
- snowflake vitreoretinal degeneration
- Senior-Loken syndrome 7
- colorectal cancer
- Parkinson disease
- psychiatric disorder
- schizophrenia
