DISEASES

Disease-gene associations mined from literature

Literature associating RIPK3 and autoimmune lymphoproliferative syndrome

RIPK3 [ENSP00000216274]

Receptor-interacting serine/threonine-protein kinase 3; Essential for necroptosis, a programmed cell death process in response to death-inducing TNF-alpha family members. Upon induction of necrosis, RIPK3 interacts with, and phosphorylates RIPK1 and MLKL to form a necrosis-inducing complex. RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL. These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production. ECO:0000269|PubMed:19524513, ECO:0000269|PubMed:22265413, ECO:0000269|PubMed:22265414, ECO:0000269|PubMed:22421439,; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.

Synonyms:  RIPK3,  RIPK3p,  hRIPK3,  H0YJN5,  Q9Y572 ...

Linkouts:  STRING  Pharos  UniProt  OMIM