Primary Identifier | MGI:1919439 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 224727 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Hsp70 protein binding activity; polyubiquitin modification-dependent protein binding activity; and proteasome binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; protein stabilization; and synaptonemal complex assembly. Acts upstream of or within negative regulation of apoptotic process. Located in cytosol and nucleus. Is expressed in palatal shelf epithelium. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma and osteoarthritis. Orthologous to human BAG6 (BAG cochaperone 6). PHENOTYPE: Targeted disruption of this gene results in either embryonic lethality following abnormal brain development or neonatal death associated with severe developmental defects in the lung and kidney. These developmental defects are associated with widespread aberrant apoptosis and proliferation. [provided by MGI curators] |