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PLCB4 gene
URL of this page: https://medlineplus.gov/genetics/gene/plcb4/

PLCB4 gene

phospholipase C beta 4

Normal Function

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.

Health Conditions Related to Genetic Changes

Auriculocondylar syndrome

Variants (also called mutations) in the PLCB4 gene have been found to cause auriculocondylar syndrome. This disorder affects the development of various facial features, primarily the ears and lower jaw (mandible). Many of the PLCB4 gene variants that cause auriculocondylar syndrome lead to the substitution of one protein building block (amino acid) for another in the beta 4 isoform of phospholipase C. These changes likely alter the structure of the protein and impair its function, leading to a disruption in cell signaling that alters the development of the structures that are formed from the first and second pharyngeal arches. 

More About This Health Condition

Other Names for This Gene

  • ARCND2
  • phospholipase C, beta 4
  • PI-PLC
  • PLC-beta-4

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • 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. doi: 10.1006/geno.1995.1214. Citation on PubMed
  • 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, Garcia-Minaur 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. Citation on PubMed
  • Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE. Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. Dis Model Mech. 2022 Apr 1;15(4):dmm049320. doi: 10.1242/dmm.049320. Epub 2022 Apr 29. Citation on PubMed
  • Li Q, Jiang Z, Zhang L, Cai S, Cai Z. Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies. J Formos Med Assoc. 2023 Sep;122(9):822-842. doi: 10.1016/j.jfma.2023.04.024. Epub 2023 May 17. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Citation on PubMed
  • Vines CM. Phospholipase C. Adv Exp Med Biol. 2012;740:235-54. doi: 10.1007/978-94-007-2888-2_10. Citation on PubMed
  • Zhang Y, Zhao Y, Dai L, Liu Y, Shi Z. Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature. Mol Genet Genomic Med. 2024 Apr;12(4):e2441. doi: 10.1002/mgg3.2441. Citation on PubMed

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