| Primary Identifier | MGI:95541 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14225 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables FK506 binding activity; identical protein binding activity; and transmembrane transporter binding activity. Involved in heart trabecula formation; regulation of ryanodine-sensitive calcium-release channel activity; and ventricular cardiac muscle tissue morphogenesis. Acts upstream of or within several processes, including T cell proliferation; release of sequestered calcium ion into cytosol; and response to caffeine. Located in sarcoplasmic reticulum membrane. Is active in synapse. Is expressed in several structures, including brain ventricular layer; jaw; orbito-sphenoid; thalamus mantle layer; and ventral grey horn. Used to study Barth syndrome. Orthologous to several human genes including FKBP1A (FKBP prolyl isomerase 1A). PHENOTYPE: Mice homozygous for a null allele display embryonic and neonatal lethality and dilated cardiomyopathy associated with ventricular septal defects, myocardial noncompaction, a thin ventricular wall, hypertrophic trabeculae, and liver hemorrhage and necrosis; about 9% show neural tube closure defects. [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
