Apaf1 has been described as the core of the apoptosome. Deficiency in murine Apaf1 leads to embryonic lethality with a phenotype affecting many aspects of developmental apoptosis. In the developing brain, Apaf1 is a death regulator of the neuronal founder cells. Combined intercrosses of mouse lines mutant for members of the mitochondrial death pathway are providing us with some clues about the relative regulation existing among neuronal cell populations. Apaf1-deficient embryos display an interesting phenotype in the inner ear and in limb development, which involves different caspase-dependent and -independent pathways. Moreover, APAF1 is mutated in human melanomas, and its depletion contributes to malignant transformation in a mouse model of cancer.
|Gene Name:||apoptotic peptidase activating factor 1|
|Family/Subfamily:||Apoptosis , Not assigned-Other|
|Synonyms:||APAF1, APAF-1, CED4, KIAA0413|
|Target Sequences:||NM_013229 NP_037361.1 O14727|
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