Disease-gene associations mined from literature

Literature associating PLCH2 and autosomal dominant hypocalcemia 2

PLCH2 [ENSP00000367747]

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity); EF-hand domain containing

Synonyms:  PLCH2,  PLCH2p,  hPLCH2,  O75038,  V9GY64 ...

Linkouts:  STRING  Pharos  UniProt  OMIM