DISEASES

Disease-gene associations mined from literature

Literature associating ITPR1 and aniridia

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).

Synonyms:  ITPR1,  ITPR1p,  hITPR1,  A0A3B3IRP0,  A0A3B3IRT5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM