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BAX BCL2 associated X, apoptosis regulator

Gene ID: 581, updated on 2-May-2024
Gene type: protein coding
Also known as: BCL2L4

Summary

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Acute lymphoid leukemia
MedGen: C0023449OMIM: 613065GeneReviews: Not available
See labs
Colorectal cancer
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs

Genomic context

Location:
19q13.33
Sequence:
Chromosome: 19; NC_000019.10 (48954875..48961798)
Total number of exons:
7

Links

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