Disease-gene associations mined from literature

Literature associating CASP3 and Alexander disease

CASP3 [ENSP00000311032]

Caspase-3 subunit p12; Involved in the activation cascade of caspases responsible for apoptosis execution. At the onset of apoptosis it proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Cleaves and activates sterol regulatory element binding proteins (SREBPs) between the basic helix-loop-helix leucine zipper domain and the membrane attachment domain. Cleaves and activates caspase-6, -7 and -9. Involved in the cleavage of huntingtin. Triggers cell adhesion in sympathetic neurons through RET cleavage.

Synonyms:  CASP3,  CASP3p,  hCASP3,  A8MVM1,  C9JXR7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM