purine rich element binding protein A
Última actualización 18 Aug 2020
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El PURA gene provides instructions for making a protein called Pur-alpha (Purα), which is able to attach (bind) to DNA and RNA (a molecular cousin of DNA). This protein has multiple roles in cells, including controlling the activity of genes (gene transcription) and aiding in the copying (replication) of DNA.
Normal function
El PURA gene provides instructions for making a protein called Pur-alpha (Purα), which is able to attach (bind) to DNA and RNA (a molecular cousin of DNA). This protein has multiple roles in cells, including controlling the activity of genes (gene transcription) and aiding in the copying (replication) of DNA.
The Purα protein is important for normal brain development. The protein helps direct the growth and division of nerve cells (neurons). It may also be involved in the formation or maturation of myelin, the protective substance that covers nerves and promotes the efficient transmission of nerve impulses.
Conditions referring to this gene or chromosome
Otros nombres
MRD31
PUR-ALPHA
PUR1
PURALPHA
purine-rich single-stranded DNA-binding protein alpha
transcriptional activator protein Pur-alpha
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Lecturas adicionales y referencias
- purine rich element binding protein A; MedlinePlus, National Library of Medicine.
- Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi: 10.1002/ajmg.a.36108. Epub 2013 Aug 15.
- Hokkanen S, Feldmann HM, Ding H, Jung CK, Bojarski L, Renner-Muller I, Schuller U, Kretzschmar H, Wolf E, Herms J. Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet. 2012 Feb 1;21(3):473-84. doi: 10.1093/hmg/ddr476. Epub 2011 Oct 18.
- Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug;158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18.
- Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.
- Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A. 2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891. Epub 2011 Mar 15.
- Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356.
- Weber J, Bao H, Hartlmuller C, Wang Z, Windhager A, Janowski R, Madl T, Jin P, Niessing D. Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha. Elife. 2016 Jan 8;5:e11297. doi: 10.7554/eLife.11297.
- White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc.8.3.7585. Epub 2009 Feb 10.
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