Disease-gene associations mined from literature

Literature associating DNAJA3 and congenital myasthenic syndrome 12

DNAJA3 [ENSP00000262375]

DnaJ homolog subfamily A member 3, mitochondrial; 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; DNAJ heat shock proteins

Synonyms:  DNAJA3,  DNAJA3p,  hDNAJA3,  DNAJA3-001,  DNAJA3-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM