Primary Identifier | MGI:107172 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 19058 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatase binding activity and phosphoprotein phosphatase activity. Involved in postsynaptic modulation of chemical synaptic transmission; regulation of postsynaptic neurotransmitter receptor internalization; and regulation of synaptic vesicle cycle. Acts upstream of or within several processes, including calcineurin-NFAT signaling cascade; circulatory system development; and myelination in peripheral nervous system. Located in sarcolemma. Part of calcineurin complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and parallel fiber to Purkinje cell synapse. Is expressed in brain; heart; jaw skeleton; lung; and tooth. Used to study dilated cardiomyopathy and schizophrenia. Human ortholog(s) of this gene implicated in Alzheimer's disease and dilated cardiomyopathy. Orthologous to human PPP3R1 (protein phosphatase 3 regulatory subunit B, alpha). PHENOTYPE: Homozygous inactivation of this gene results in embryonic death by midgestation due to vascular patterning defects. [provided by MGI curators] |