BAG3 gene

BCL2 associated athanogene 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Has anti-apoptotic activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Myofibrillar myopathy, BAG3-related
  • Dilated cardiomyopathy 1HH

From UniProt:

Myopathy, myofibrillar, 6 (MFM6): A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. [MIM:612954]

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. [MIM:613881]

Cytogenetic Location: 10q26.11, which is the long (q) arm of chromosome 10 at position 26.11

Molecular Location: base pairs 119,651,347 to 119,677,819 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q26.11, which is the long (q) arm of chromosome 10 at position 26.11
  • BAG-3
  • BIS
  • CAIR-1
  • MFM6