PLCH1

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Description

The PLCH1 (phospholipase C eta 1) is a protein-coding gene located on chromosome 3.

PLCH1, also known as Phospholipase C-eta-1, is a calcium-activated enzyme that breaks down a molecule called phosphatidylinositol 4,5-bisphosphate (PIP2). This breakdown produces two important signaling molecules: diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3).

PLCH1 is also known as HPE14, PLC eta 1, PLC-L3, PLCL3.

Associated Diseases

• Alobar holoprosencephaly
• Holoprosencephaly 14