PIP5K1B

Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene.^[1]^[2]^[3]

Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia.^[4]

References

↑ Pook MA, Carvajal JJ, Doudney K, Hillermann R, Chamberlain S (Jul 1997). "Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity". Genomics. 42 (1): 170–2. doi:10.1006/geno.1997.4726. PMID 9177790.
↑ Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S (Nov 1996). "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase". Nat Genet. 14 (2): 157–62. doi:10.1038/ng1096-157. PMID 8841185.
↑ "Entrez Gene: PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta".
↑ Bayot A, Reichman S, Lebon S, Csaba Z, Aubry L, Sterkers G, Husson I, Rak M, Rustin P (2013). "Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies". Hum. Mol. Genet. 22 (14): 2894–904. doi:10.1093/hmg/ddt144. PMID 23552101.

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Carpenter CL (2004). "Btk-dependent regulation of phosphoinositide synthesis". Biochem. Soc. Trans. 32 (Pt 2): 326–9. doi:10.1042/BST0320326. PMID 15046600.
Carvajal JJ, Pook MA, Doudney K, et al. (1995). "Friedreich's ataxia: a defect in signal transduction?". Hum. Mol. Genet. 4 (8): 1411–9. doi:10.1093/hmg/4.8.1411. PMID 7581382.
Loijens JC, Anderson RA (1997). "Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family". J. Biol. Chem. 271 (51): 32937–43. doi:10.1074/jbc.271.51.32937. PMID 8955136.
Chang JD, Field SJ, Rameh LE, et al. (2004). "Identification and characterization of a phosphoinositide phosphate kinase homolog". J. Biol. Chem. 279 (12): 11672–9. doi:10.1074/jbc.M309721200. PMID 14701839.
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.

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