Primary Identifier | MGI:107231 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 13383 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables molecular adaptor activity and potassium channel regulator activity. A structural constituent of postsynaptic density. Involved in several processes, including membrane repolarization during ventricular cardiac muscle cell action potential; neurotransmitter receptor localization to postsynaptic specialization membrane; and regulation of potassium ion transmembrane transport. Acts upstream of or within several processes, including hard palate development; negative regulation of cell population proliferation; and negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in several cellular components, including basolateral plasma membrane; immunological synapse; and lateral loop. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and surface ectoderm. Human ortholog(s) of this gene implicated in invasive ductal carcinoma. Orthologous to human DLG1 (discs large MAGUK scaffold protein 1). PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate. [provided by MGI curators] |