MPDZ gene

multiple PDZ domain crumbs cell polarity complex component

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

From UniProt:

Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses.

From NCBI Gene:

  • Hydrocephalus, congenital, 2, with or without brain or eye anomalies

From UniProt:

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 impairement. 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. [MIM:615219]

Cytogenetic Location: 9p23, which is the short (p) arm of chromosome 9 at position 23

Molecular Location: base pairs 13,105,296 to 13,279,713 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9p23, which is the short (p) arm of chromosome 9 at position 23
  • HYC2
  • MUPP1