Disease-gene associations mined from literature

Literature associating ITPR1 and cerebellar hypoplasia

ITPR1 [ENSP00000306253]

Inositol 1,4,5-trisphosphate receptor, type 1; Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity); Inositol 1,4,5-triphosphate receptors

Synonyms:  ITPR1,  ITPR1p,  hITPR1,  B7ZMI3,  Q14643 ...

Linkouts:  STRING  Pharos  UniProt  OMIM