PLEKHG4

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PLEKHG4
Identifiers
Aliases PLEKHG4, ARHGEF44, PRTPHN1, SCA4, pleckstrin homology and RhoGEF domain containing G4
External IDs MGI: 2142544 HomoloGene: 18516 GeneCards: PLEKHG4
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001129727
NM_001129728
NM_001129729
NM_001129731
NM_015432

NM_001081333
NM_175321

RefSeq (protein)

NP_001123199
NP_001123200
NP_001123201
NP_001123203

n/a

Location (UCSC) Chr 16: 67.28 – 67.29 Mb Chr 8: 105.37 – 105.38 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.[3][4][5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 1224530Freely accessible. PMID 16001362. 
  5. ^ "Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4". 

Further reading[edit]