Primary Identifier | MGI:107163 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 19056 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calmodulin-dependent protein phosphatase activity. Involved in several processes, including positive regulation of insulin secretion involved in cellular response to glucose stimulus; protein modification process; and skeletal muscle fiber development. Acts upstream of or within several processes, including circulatory system development; locomotion involved in locomotory behavior; and negative regulation of T cell mediated cytotoxicity. Located in T-tubule and Z disc. Is active in glutamatergic synapse. Is expressed in several structures, including brain; gastrocnemius muscle; genitourinary system; jaw skeleton; and tooth. Human ortholog(s) of this gene implicated in aortic valve stenosis. Orthologous to human PPP3CB (protein phosphatase 3 catalytic subunit beta). PHENOTYPE: Homozygous null mice have small hearts and thymi, and reduced body weight. Cardiac function is normal, but mice lack a cardiac hypertrophic response to pressure overload, angiotensin II, or isopreteronol. Thymi are hypoplastic, with abnormal T cell development and reduced numbers of T cells. [provided by MGI curators] |