PRRT1
Description
The PRRT1 (proline rich transmembrane protein 1) is a protein-coding gene located on chromosome 6.
PRRT1 is essential for maintaining a pool of extrasynaptic AMPA receptors (AMPARs), which are crucial for synapse formation and function. During development, PRRT1 regulates the basic activity of AMPARs and synaptic transmission. However, it becomes dispensable at mature hippocampal synapses. PRRT1 plays a role in controlling the baseline phosphorylation levels of the glutamate receptor GRIA1 and promotes the expression of GRIA1 and GRIA2 on the cell surface.
PRRT1 is also known as C6orf31, DSPD1, IFITMD7, NG5, SynDIG4.
Associated Diseases
- 7q11.23 microduplication syndrome
- microangiopathy and leukoencephalopathy, pontine, autosomal dominant
- schizophrenia
- type 2 diabetes mellitus
