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Details of BAG3 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| BAG3 | BIS | O95817 | BAG3_HUMAN | 9531 | ENSG00000151929 | BAG family molecular chaperone regulator 3 | SPROT |
Disease |
Disease |
OMIM id |
Myopathy, myofibrillar, 6 (MFM6) [MIM:612954]: A neuromuscular disorder that results in early-onset, severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. At ultrastructural level, muscle fibers display structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612954 |
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613881 |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Bag3 | stv | --- | --- |