PLEKHG4
| Pleckstrin homology domain containing, family G (with RhoGef domain) member 4 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PLEKHG4 ; ARHGEF44; PRTPHN1; SCA4 | ||||||||||||
| External IDs | OMIM: 609526 MGI: 2142544 HomoloGene: 18516 GeneCards: PLEKHG4 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 25894 | 102075 | |||||||||||
| Ensembl | ENSG00000196155 | ENSMUSG00000014782 | |||||||||||
| UniProt | Q58EX7 | E0CYM2 | |||||||||||
| RefSeq (mRNA) | NM_001129727 | NM_001081333 | |||||||||||
| RefSeq (protein) | NP_001123199 | NP_001074802 | |||||||||||
| Location (UCSC) |
Chr 16: 67.28 – 67.29 Mb |
Chr 8: 105.37 – 105.38 Mb | |||||||||||
| PubMed search | |||||||||||||
Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.[1][2][3]
References
- ↑ Wieczorek S, Arning L, Alheite I, Epplen JT (Apr 2006). "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. doi:10.1007/s10038-006-0372-y. PMID 16491300.
- ↑ 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 (Jul 2005). "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. doi:10.1086/432518. PMC 1224530. PMID 16001362.
- ↑ "Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4".
Further reading
- Flanigan K, Gardner K, Alderson K, et al. (1996). "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. PMC 1914712. PMID 8755926.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hellenbroich Y, Bubel S, Pawlack H, et al. (2003). "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. doi:10.1007/s00415-003-1052-x. PMID 12796826.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Hirano R, Takashima H, Okubo R, et al. (2005). "Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.". Neurogenetics 5 (4): 215–21. doi:10.1007/s10048-004-0194-z. PMID 15455264.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- Ouyang Y, Sakoe K, Shimazaki H, et al. (2006). "16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.". J. Neurol. Sci. 247 (2): 180–6. doi:10.1016/j.jns.2006.04.009. PMID 16780885.
- Nozaki H, Ikeuchi T, Kawakami A, et al. (2007). "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. doi:10.1002/mds.21443. PMID 17357132.
- Amino T, Ishikawa K, Toru S, et al. (2007). "Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.". J. Hum. Genet. 52 (8): 643–9. doi:10.1007/s10038-007-0154-1. PMID 17611710.
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