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.
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?
- auriculo-condylar syndrome - caused by mutations in the PLCB4 gene
At least nine mutations in the PLCB4 gene have been found to cause auriculo-condylar syndrome, a disorder that primarily affects the development of the ears and lower jaw (mandible). The identified mutations change single protein building blocks (amino acids) in the the beta 4 isoform of phospholipase C. These changes likely alter the structure of the protein and impair the phosphoinositide cycle. Abnormal signaling alters the formation of the lower jaw: instead of developing normally, the lower jaw becomes shaped more like the smaller upper jaw (maxilla). The abnormal shape leads to an unusually small chin (micrognathia) and problems with jaw function. Researchers are working to determine how mutations in this gene lead to the other developmental abnormalities associated with auriculo-condylar syndrome.
Where is the PLCB4 gene located?
Cytogenetic Location: 20p12
Molecular Location on chromosome 20: base pairs 9,068,709 to 9,480,815
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 9,068,709 to base pair 9,480,815 on chromosome 20.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about PLCB4?
You and your healthcare professional may find the following resources about PLCB4 helpful.
Educational resources - Information pages
- Biochemistry (fifth edition, 2002): The Hydrolysis of Phosphatidyl Inositol Bisphosphate by Phospholipase C Generates Two Messengers (http://www.ncbi.nlm.nih.gov/books/NBK22443/)
- Madame Curie Bioscience Database: Phospholipase C (http://www.ncbi.nlm.nih.gov/books/NBK6267/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for PLCB4 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5332%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28PLCB4%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20OR%20%28%28phosphoinositidase%20C%5BTIAB%5D%29%20AND%20%28beta%204%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/600810)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PLCB4.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=9059)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5332)
What other names do people use for the PLCB4 gene or gene products?
- 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
- dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))
- monophosphatidylinositol phosphodiesterase
- phosphoinositidase C
- phosphoinositide phospholipase C-beta-4
- triphosphoinositide phosphodiesterase
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding PLCB4?
lower jaw ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Alvarez RA, Ghalayini AJ, Xu P, Hardcastle A, Bhattacharya S, Rao PN, Pettenati MJ, Anderson RE, Baehr W. cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4). Genomics. 1995 Sep 1;29(1):53-61. (http://www.ncbi.nlm.nih.gov/pubmed/8530101?dopt=Abstract)
- Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. (http://www.ncbi.nlm.nih.gov/pubmed/23315542?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5332)
- OMIM: PHOSPHOLIPASE C, BETA-4 (http://omim.org/entry/600810)
- Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1116. Am J Hum Genet. 2012 Aug 10;91(2):397. (http://www.ncbi.nlm.nih.gov/pubmed/22560091?dopt=Abstract)
- Vines CM. Phospholipase C. Adv Exp Med Biol. 2012;740:235-54. doi: 10.1007/978-94-007-2888-2_10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22453945?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.