PLCB4

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Template:Short description An Error has occurred retrieving Wikidata item for infobox 1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4 is an enzyme that in humans is encoded by the PLCB4 gene.[1][2]

Function

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 transduction of many extracellular signals in the retina. Two transcript variants encoding different isoforms have been found for this gene.[2]

Oncogenic mutations in this gene have been found in cases of uveal melanoma.[3]

References

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  1. ^ Page Module:Citation/CS1/styles.css has no content.Alvarez RA, Ghalayini AJ, Xu P, Hardcastle A, Bhattacharya S, Rao PN, Pettenati MJ, Anderson RE, Baehr W (Feb 1996). "cDNA sequence and gene locus of the human retinal phosphoinositide-specific phospholipase-C beta 4 (PLCB4)". Genomics. 29 (1): 53–61. doi:10.1006/geno.1995.1214. PMID 8530101.
  2. ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: PLCB4 phospholipase C, beta 4".
  3. ^ Page Module:Citation/CS1/styles.css has no content.Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jonsson G, Hayward NK (Jan 2016). "Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4". Oncotarget. 7 (4): 4624–31. doi:10.18632/oncotarget.6614. PMC 4826231. PMID 26683228.

Further reading

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