BAX Chromosome 19

BCL2 associated X, apoptosis regulator
2 variants 2 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
BCL2 family
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000087088
Associated Conditions (2)
T-cell acute lymphoblastic leukemia
Carcinoma of colon
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS398122513 Health Risk Pathogenic T-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia
RS398122840 Health Risk Pathogenic Carcinoma of colon, T-cell acute lymphoblastic leukemia, Carcinoma of colon
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