| Primary Identifier | MGI:1336205 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 14226 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables FK506 binding activity; peptidyl-prolyl cis-trans isomerase activity; and transmembrane transporter binding activity. Involved in negative regulation of heart rate; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; and regulation of ryanodine-sensitive calcium-release channel activity. Acts upstream of or within several processes, including insulin secretion; negative regulation of insulin secretion involved in cellular response to glucose stimulus; and neuronal action potential propagation. Located in sarcoplasmic reticulum membrane. Part of calcium channel complex. Is expressed in male reproductive gland or organ and nervous system. Used to study catecholaminergic polymorphic ventricular tachycardia. Human ortholog(s) of this gene implicated in Graves' disease. Orthologous to human FKBP1B (FKBP prolyl isomerase 1B). PHENOTYPE: Homozygotes for a null allele display exercise-induced sudden cardiac death. Homozygotes for a second null allele show impaired glucose tolerance and glucose-driven insulin secretion. Homozygotes for a third null allele show Ca2+ dysregulation and male-specific cardiac hypertrophy and hypertension. [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
