PLCB4 gene

Last updated on: 15.08.2024

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

The PLCB4 gene (PLCB4 stands for: Phospholipase C Beta 4) is a protein coding gene located on chromosome 20p12.3-p12.2. An important paralog of this gene is PLCB1.

General informationThis section has been translated automatically.

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transmission of many extracellular signals in the retina. Several transcript variants encoding different isoforms have been found for this gene. Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four main classes: phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Clinical pictureThis section has been translated automatically.

Diseases associated with PLCB4 include auriculocondylar syndrome. Auriculocondylar syndrome is a rare genetic dysostosis that affects craniofacial development. It is characterized by bilateral malformations of the outer ears, hypoplasia of the mandibular condyles, microstomia, micrognathia, microglossia and facial asymmetry. Other manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. The condition includes malformed outer ears, including a pronounced question mark shape, cupped ears, narrow ear canals and rotated ears. Abnormalities of the lower jaw are common, with features such as micrognathia and dysfunction of the temporomandibular joint. Other features may include protruding cheeks, microstomia, facial asymmetry and cleft palate. Phenotypic variation can be considerable within and between families.

Blue nevus: GNAQ and GNA11 mutations are frequently found in blue nevi and choroidal melanomas. Recurrent CYSLTR2 and PLCB4 mutations have been found in uveal melanomas that do not have GNAQ or GNA11 mutations. All four genes (GNAQ, GNA11, CYSLTR2 and PLCB4) encode proteins that are involved in the same signaling pathway, which is activated by (activating) mutations in these genes (Möller I et al.2017).

Note(s)This section has been translated automatically.

Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3), which are involved in G protein-coupled receptor signaling pathways. PLCB4 is a direct effector of the endothelin receptor signaling pathway, which plays an essential role in the development of mandibular and middle ear structures (Kanai SM et al. 2022).

LiteratureThis section has been translated automatically.

  1. de la Fouchardiere A (2023). Blue naevi and the blue tumor spectrum. Pathology 55:187-195.
  2. Kanai SM et al. (2022) Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. Dis Model Mech 15:dmm049320.
  3. Möller I et al.(2017) Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi. Mod Pathol 30: 350-356

Last updated on: 15.08.2024