PLEKHG4

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Pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Identifiers
Symbols PLEKHG4 ; ARHGEF44; PRTPHN1; SCA4
External IDs OMIM609526 MGI2142544 HomoloGene18516 GeneCards: PLEKHG4 Gene
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:
67.31 – 67.32 Mb
Chr 8:
105.37 – 105.38 Mb
PubMed search [1] [2]

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


References[edit]

  1. ^ 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. 
  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 (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. 
  3. ^ "Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4". 

Further reading[edit]