The PLCB4 gene provides instructions for making one form (the beta 4 isoform) of a protein called phospholipase C. This protein is involved in a signaling pathway known as the phosphoinositide cycle, which helps transmit information from the outside of the cell to the inside of the cell. During this cycle, phospholipase C converts a large molecule called phosphatidylinositol 4,5-bisphosphate into two smaller molecules. These smaller molecules relay messages into the cell that ultimately influence many cell activities.
Studies suggest that the beta 4 isoform of phospholipase C contributes to the proper development of the first and second pharyngeal arches. During early development, these structures become the bones and tissues of the head and face, including the jawbones, facial muscles, and the inner and outer ear.
The beta 4 isoform of phospholipase C is also important for the proper functioning of the retina, which is the specialized light-sensitive tissue that lines the back of the eye.
Other Names
ARCND2; phospholipase C, beta 4; PI-PLC; PLC-beta-4
Related Genetics Topics
Identifiers
- NCBI Gene: 5332
- OMIM: 600810
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
