GPATCH8

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GPATCH8
Identifiers
Aliases GPATCH8, GPATC8, KIAA0553, G-patch domain containing 8
External IDs MGI: 1918667 HomoloGene: 46117 GeneCards: GPATCH8
RNA expression pattern
PBB GE GPATCH8 212487 at fs.png

PBB GE GPATCH8 212485 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001159492

RefSeq (protein)
Location (UCSC) Chr 17: 44.4 – 44.5 Mb Chr 11: 102.48 – 102.56 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.[3][4]

Hyperuricemia[edit]

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581. 
  4. ^ "Entrez Gene: GPATCH8 G patch domain containing 8". 
  5. ^ Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K (Nov 2011). "Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8". Hum. Genet. 130 (5): 671–83. doi:10.1007/s00439-011-1006-9. PMID 21594610. 

Further reading[edit]