PACS2
Function
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 apoptotic 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.
Involvement in disease
Developmental and epileptic encephalopathy 66
DEE66
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PACS family.
Tissue Specificity
Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas and testis.
Cellular localization
- Endoplasmic reticulum
- Mitochondrion
Alternative names
KIAA0602, PACS1L, PACS2, Phosphofurin acidic cluster sorting protein 2, PACS-2, PACS1-like protein