PLEKHG4

From Wikipedia, the free encyclopedia

Pleckstrin homology domain containing, family G (with RhoGef domain) member 4

Identifiers

PLEKHG4; DKFZP434I216; puratrophin1

External IDs

OMIM: 609526 MGI: 2142544 HomoloGene: 18516

Gene ontology
Molecular Function:	• guanyl-nucleotide exchange factor activity • Rho guanyl-nucleotide exchange factor activity
Cellular Component:	• intracellular
Biological Process:	• cell death • regulation of Rho protein signal transduction

Orthologs

Human

Mouse

n/a

Refseq

NM_015432 (mRNA)
NP_056247 (protein)

XM_894892 (mRNA)
XP_899985 (protein)

Location

Chr 16: 65.87 - 65.88 Mb

Chr 8: 108.27 - 108.27 Mb

Pubmed search

[1]

[2]

Pleckstrin homology domain containing, family G (with RhoGef domain) member 4, also known as PLEKHG4, is a human gene.^[1]

[edit] References

^ Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4.

[edit] 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. 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. 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. PMID 15489334.
Ishikawa K, Toru S, Tsunemi T, et al. (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. PMID 16001362.
Wieczorek S, Arning L, Alheite I, Epplen JT (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.
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.