Primary Identifier | MGI:2140220 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230249 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable molecular adaptor activity and proteasome binding activity. Predicted to be involved in ERAD pathway. Predicted to be located in several cellular components, including centrosome; cytoplasmic vesicle; and nucleoplasm. Predicted to be part of proteasome complex. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; cerebral cortex; cerebral cortex intermediate zone; cerebral cortex subventricular zone; and cortical plate. Orthologous to human ECPAS (Ecm29 proteasome adaptor and scaffold). PHENOTYPE: Mice homozygous for a null allele show increased susceptibility to chemically-induced convulsive seizures, and maturing neurons show a delay in GABAergic response switch and accelerated axon initial segment developmental positioning. [provided by MGI curators] |