| Primary Identifier | MGI:1352493 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 29810 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable adenyl-nucleotide exchange factor activity and protein-folding chaperone binding activity. Involved in muscle cell cellular homeostasis. Acts upstream of or within several processes, including cellular response to mechanical stimulus; extrinsic apoptotic signaling pathway in absence of ligand; and protein stabilization. Located in Z disc. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Used to study dilated cardiomyopathy 1HH. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1HH and myofibrillar myopathy 6. Orthologous to human BAG3 (BAG cochaperone 3). PHENOTYPE: Mice homozygous for a gene trap allele exhibit postnatal lethality, growth retardation, cardiomyocyte and skeletal myocyte degeneration, and pulmonary edema. Mice homozygous for a null allele also exhibit postnatal lethality and growth retardation but lack the myocyte degeneration phenotype. [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
