Preferred Label : BAX wt Allele;
NCIt synonyms : BCL2 Associated X, Apoptosis Regulator wt Allele; BCL2L4; BCL2 Associated X Protein Gene; BCL2-Associated X Protein Gene;
NCIt definition : Human BAX wild-type allele is located within 19q13.33 and is approximately 7 kb in
length. This allele, which encodes apoptosis regulator BAX protein, plays a role in
the regulation of the apoptotic program by varying the permeability of the mitochondrial
membrane.;
NCIt note : The BAX gene is expressed as 4 distinct isoforms (alpha, beta, gamma and delta) generated
by alternative splicing. The alpha form is a membrane localized protein and the other
3 are cytoplasmic.; BAX shows extensive amino acid homology with BCL2 and forms homo- and heterodimers
with BCL2, which controls mitochondrial membrane permeability. The ratio of BAX to
BCL2 may determine survival or death following an apoptotic stimulus. BAX binds to
PTPC, the mitochondrial porin channel VDAC, involved in regulation of mitochondrial
membrane permeability. BAX and mitochondrial protein ANT cooperate within PTPC to
increase mitochondrial membrane permeability, which causes release of cytochrome C
into the cytoplasm, activating death-driving proteolytic caspases. Its promoter contains
consensus p53-binding sites. A primary-response gene for p53, BAX is involved in a
p53-regulated pathway for induction of apoptosis.;
GenBank Accession Number : L22474; NM_004324;
Origin ID : C49368;
UMLS CUI : C1706879;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
