Primary Identifier | MGI:1347075 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 26422 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase binding activity. Involved in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane and synapse organization. Acts upstream of or within hematopoietic stem cell homeostasis and protein localization. Located in several cellular components, including cytosol; nucleus; and trans-Golgi network. Is active in glutamatergic synapse. Is expressed in several structures, including brain; genitourinary system; gut; neural tube; and sensory organ. Used to study autism spectrum disorder. Orthologous to human NBEA (neurobeachin). PHENOTYPE: Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission. [provided by MGI curators] |