| 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 7.0.0) Enables protein homodimerization activity. Involved in acrosome assembly; intracellular calcium ion homeostasis; and negative regulation of calcium ion import into sarcoplasmic reticulum. Acts upstream of or within several processes, including adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process; muscle cell cellular homeostasis; and regulation of heart contraction. Located in sarcoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; ear; heart; nervous system; and skeleton. 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
