PLEKHG4 explained

Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.^{[1] [2] [3]}

Further reading

• Flanigan K, Gardner K, Alderson K, etal . Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. . Am. J. Hum. Genet. . 59 . 2 . 392–9 . 1996 . 8755926 . 1914712 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Hellenbroich Y, Bubel S, Pawlack H, etal . Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. . J. Neurol. . 250 . 6 . 668–71 . 2003 . 12796826 . 10.1007/s00415-003-1052-x . 24535657 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Hirano R, Takashima H, Okubo R, etal . Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. . Neurogenetics . 5 . 4 . 215–21 . 2005 . 15455264 . 10.1007/s10048-004-0194-z . 34569635 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Lim J, Hao T, Shaw C, etal . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. . Cell . 125 . 4 . 801–14 . 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . 13709685 . free .
• Ouyang Y, Sakoe K, Shimazaki H, etal . 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. . J. Neurol. Sci. . 247 . 2 . 180–6 . 2006 . 16780885 . 10.1016/j.jns.2006.04.009 . 35623283 .
• Nozaki H, Ikeuchi T, Kawakami A, etal . Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. . Mov. Disord. . 22 . 6 . 857–62 . 2007 . 17357132 . 10.1002/mds.21443 . 7082224 . free .
• Amino T, Ishikawa K, Toru S, etal . Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. . J. Hum. Genet. . 52 . 8 . 643–9 . 2007 . 17611710 . 10.1007/s10038-007-0154-1 . free .

Notes and References

1. Wieczorek S, Arning L, Alheite I, Epplen JT . Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population . J Hum Genet . 51 . 4 . 363–7 . Apr 2006 . 16491300 . 10.1007/s10038-006-0372-y . free .
2. Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H . An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains . Am J Hum Genet . 77 . 2 . 280–96 . Jul 2005 . 16001362 . 1224530 . 10.1086/432518 .
3. Web site: Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4.