Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma-mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway.
Mitochondrion matrix. Cytoplasm, cytosol . Cell junction, synapse, postsynaptic cell membrane ; Peripheral membrane protein . Recruited to the postsynaptic cell membrane of the neuromuscular junction through interaction with MUSK. .
Widely expressed with highest levels in heart, liver, lung and skeletal muscles. Also expressed in keratinocytes.
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