MPDZ

The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface.

MULTIPLE PDZ DOMAIN CRUMBS CELL POLARITY COMPLEX COMPONENT

Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654).

Promotes clustering of HT2RC at the cell surface (By similarity).

Microtubule organizing center organization Source: GO_Central
Regulation of microtubule cytoskeleton organization Source: GO_Central
Tight junction assembly Source: GO_Central

Plasma membrane
Cell membrane
Apical cell membrane
Other locations
postsynaptic density
dendrite
tight junction
synapse
synaptosome
Note: Colocalizes with HTR2C on the apical membrane of epithelial choroid plexus cells (By similarity). Highly enriched in postsynaptic densities (PSD). Localized to punctae on dendrites of hippocampal neurons and colocalizes with the synaptic marker DLG4. Localized mainly in the Schmidt-Lanterman incisures of myelinating Schwann cells (By similarity). In the retina, localizes to the sub-apical region adjacent to the adherens junction complex at the outer limiting membrane. Enriched at the tight junctions of epithelial cells. Association to the tight junctions depends on CXADR.

Hydrocephalus, congenital, 2, with or without brain or eye anomalies (HYC2):
A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC2 affected individuals have variable neurologic impairment. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and non-specific dysmorphic features, may be observed. HYC2 inheritance is autosomal recessive.