|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “BCL2-associated athanogene 3.”
BAG3 is the gene's official symbol. The BAG3 gene is also known by other names, listed below.
BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Has anti-apoptotic activity.
Myopathy, myofibrillar, 6 (MFM6): 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. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1HH (CMD1HH): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.
|612954 (http://omim.org/entry/612954)||MYOPATHY, MYOFIBRILLAR, 6|
|613881 (http://omim.org/entry/613881)||CARDIOMYOPATHY, DILATED, 1HH|
|603883 (http://omim.org/entry/603883)||BCL2-ASSOCIATED ATHANOGENE 3|
Cytogenetic Location: 10q25.2-q26.2
Molecular Location on chromosome 10: base pairs 119,651,346 to 119,677,818
The BAG3 gene is located on the long (q) arm of chromosome 10 between positions 25.2 and 26.2.
More precisely, the BAG3 gene is located from base pair 119,651,346 to base pair 119,677,818 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BAG3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; arrhythmia ; cardiomyopathy ; chaperone ; dilated ; dilation ; domain ; gene ; heart failure ; in vitro ; protein ; respiratory
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.