Preferred Label : Apoptosis Regulator BAX;
NCIt synonyms : BCL2-Associated X Protein; BAX Protein; BAX Isoform Alpha; BAX; Bcl2-L-4; Bcl-2-Like Protein 4;
NCIt definition : Apoptosis regulator BAX (192 aa, 21 kDa) is encoded by the human BAX gene. This protein
plays a role in both apoptosis and protein-protein interactions.;
NCIt note : The BAX gene produces at least four proteins by alternate splicing: membrane-bound
alpha and cytoplasmic beta, gamma, and delta; all bind and antagonize BCL2, which
represses programmed cell death. Pro-apoptotic BAX acts as a partner of BCL2, shows
extensive homology with BCL2, and forms homodimers and heterodimers with BCL2. Pro-apoptotic
BAX and BAK proteins accelerate opening of the mitochondrial porin channel, VDAC.
BAX appears to interact, and cooperate, with the constitutive pro-apoptotic ANT mitochondrial
protein within the pore complex to increase mitochondrial permeability, allowing cytochrome
C passage and triggering cell death. Expression of BAX is a significant prognostic
factor in patients with gastric lymphoma. Its prognostic value increases significantly
when studied in BCL2-negative patients. (from OMIM 600040 and NCI);
Origin ID : C17699;
UMLS CUI : C1528509;
Currated CISMeF NLP mapping
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_has_biochemical_function
- gene_product_has_chemical_classification
- gene_product_has_structural_domain_or_motif
- gene_product_is_biomarker_type
- gene_product_is_element_in_pathway
- gene_product_plays_role_in_biological_process
