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PLEKHG4
Identifiers
Aliases	PLEKHG4, ARHGEF44, PRTPHN1, SCA4, pleckstrin homology and RhoGEF domain containing G4
External IDs	OMIM: 609526; MGI: 2142544; HomoloGene: 18516; GeneCards: PLEKHG4; OMA:PLEKHG4 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q22.1 Start 67,277,510 bp End 67,289,499 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 D3 Start 106,099,906 bp End 106,109,494 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis gonad left ovary right ovary cartilage tissue testicle tibial nerve epithelium of lactiferous gland lactiferous duct Top expressed in spermatocyte body of femur calvaria seminiferous tubule neural layer of retina gastrula tail of embryo embryo embryo cerebellar cortex More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 25894 102075 Ensembl ENSG00000196155 ENSMUSG00000014782 UniProt Q58EX7 n/a RefSeq (mRNA) NM_001129727 NM_001129728 NM_001129729 NM_001129731 NM_015432 NM_001081333 NM_175321 NM_001364406 RefSeq (protein) NP_001123199 NP_001123200 NP_001123201 NP_001123203 n/a Location (UCSC) Chr 16: 67.28 – 67.29 Mb Chr 8: 106.1 – 106.11 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000196155 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000014782 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "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. Bibcode:2002PNAS...9916899M. 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. S2CID 24535657.
• 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. S2CID 34569635.
• 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. S2CID 13709685.
• 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. S2CID 35623283.
• 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. S2CID 7082224.
• 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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