Primary Identifier | MGI:97622 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 18821 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATPase inhibitor activity and protein homodimerization activity. Involved in several processes, including locomotor rhythm; negative regulation of calcium ion import into sarcoplasmic reticulum; and visual learning. Acts upstream of or within several processes, including muscle cell cellular homeostasis; regulation of calcium ion transport; and regulation of heart contraction. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; ear; heart; nervous system; and skeleton. Used to study centronuclear myopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1P and hypertrophic cardiomyopathy 18. Orthologous to human PLN (phospholamban). PHENOTYPE: Homozygotes for a targeted null mutation exhibit enhanced myocardial function without altered heart rate, but do not respond to the beta-agonist isoproterenol. Mutants are overtly normal and fertile. [provided by MGI curators] |