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Reviewed January 2013
What is the official name of the PLCB4 gene?
The official name of this gene is “phospholipase C beta 4.”
PLCB4 is the gene's official symbol. The PLCB4 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PLCB4 gene?
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 within cells known as the phosphoinositide cycle, which helps transmit information from outside the cell to inside the cell. Phospholipase C carries out one particular step in the phosphoinositide cycle: the conversion of a molecule called phosphatidylinositol 4,5-bisphosphate (PIP2) to two smaller molecules, inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol. 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 development of the first and second pharyngeal arches. These embryonic structures ultimately develop into the jawbones, facial muscles, middle ear bones, ear canals, outer ears, and related tissues. This protein is also thought to play a role in vision, particularly in the function of the retina, which is a specialized tissue at the back of the eye that detects light and color.
How are changes in the PLCB4 gene related to health conditions?
Where is the PLCB4 gene located?
Cytogenetic Location: 20p12
Molecular Location on chromosome 20: base pairs 9,068,710 to 9,480,816
The PLCB4 gene is located on the short (p) arm of chromosome 20 at position 12.
More precisely, the PLCB4 gene is located from base pair 9,068,710 to base pair 9,480,816 on chromosome 20.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PLCB4?
You and your healthcare professional may find the following resources about PLCB4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PLCB4 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PLCB4?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.