DISEASES

Disease-gene associations mined from literature

Literature associating PACS2 and early infantile epileptic encephalopathy 66

PACS2 [ENSP00000393559]

Phosphofurin acidic cluster sorting protein 2; Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments.

Synonyms:  PACS2,  PACS2p,  hPACS2,  E9PB38,  F8VW41 ...

Linkouts:  STRING  Pharos  UniProt  OMIM