DLGAP1

Ideogram human chromosome 18

DLGAP1

DLGAP1, also known as Discs Large Homolog Associated Protein 1, is a protein-coding gene located on chromosome 18 in humans. It plays a crucial role in synaptic function and plasticity in the brain.

Structure

DLGAP1 is composed of multiple domains, including PDZ (PSD-95/Discs large/ZO-1) domains that are involved in protein-protein interactions at the synapse. It interacts with various synaptic proteins such as DLG4 (PSD-95) and GRIN2A (NMDA receptor subunit).

Function

DLGAP1 is essential for the organization and stabilization of synaptic structures. It regulates the trafficking and clustering of receptors at the postsynaptic density, contributing to synaptic transmission and plasticity.

Clinical Significance

Mutations in DLGAP1 have been associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disability. Dysregulation of DLGAP1 expression or function can lead to synaptic dysfunction and cognitive impairments.

Interactions

DLGAP1 interacts with a variety of proteins involved in synaptic signaling and plasticity, including DLG4, SHANK3, and GRIN2A. These interactions are crucial for the proper functioning of excitatory synapses in the brain.

References

1. Kim E, Sheng M. PDZ domain proteins of synapses. Nat Rev Neurosci. 2004. 2. Monteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017.