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'''Puratrophin-1''' is a [[protein]] that in humans is encoded by the ''PLEKHG4'' [[gene]].<ref name="pmid16491300">{{cite journal | author = Wieczorek S, Arning L, Alheite I, Epplen JT | title = Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population | journal = J Hum Genet | volume = 51 | issue = 4 | pages = 363–7 |date=Apr 2006 | pmid = 16491300 | pmc = | doi = 10.1007/s10038-006-0372-y }}</ref><ref name="pmid16001362">{{cite journal | author = 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 | title = 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 | journal = Am J Hum Genet | volume = 77 | issue = 2 | pages = 280–96 |date=Jul 2005 | pmid = 16001362 | pmc = 1224530 | doi = 10.1086/432518 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25894| accessdate = }}</ref>
'''Puratrophin-1''' is a [[protein]] that in humans is encoded by the ''PLEKHG4'' [[gene]].<ref name="pmid16491300">{{cite journal | vauthors = Wieczorek S, Arning L, Alheite I, Epplen JT | title = Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population | journal = J Hum Genet | volume = 51 | issue = 4 | pages = 363–7 |date=Apr 2006 | pmid = 16491300 | pmc = | doi = 10.1007/s10038-006-0372-y }}</ref><ref name="pmid16001362">{{cite journal | vauthors = 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 | title = 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 | journal = Am J Hum Genet | volume = 77 | issue = 2 | pages = 280–96 |date=Jul 2005 | pmid = 16001362 | pmc = 1224530 | doi = 10.1086/432518 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25894| accessdate = }}</ref>


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==References==
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==Further reading==
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Revision as of 15:41, 3 June 2016

PLEKHG4
Identifiers
AliasesPLEKHG4, ARHGEF44, PRTPHN1, SCA4, pleckstrin homology and RhoGEF domain containing G4
External IDsOMIM: 609526; MGI: 2142544; HomoloGene: 18516; GeneCards: PLEKHG4; OMA:PLEKHG4 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 8: 106.1 – 106.11 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Puratrophin-1 is a protein that in humans is encoded by the PLEKHG4 gene.[5][6][7]

Template:PBB Summary

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196155 – Ensembl, May 2017
  2. ^ a b c 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

Template:PBB Further reading

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