GPATCH8
Identifiers
AliasesGPATCH8, GPATC8, KIAA0553, G-patch domain containing 8
External IDsOMIM: 614396 MGI: 1918667 HomoloGene: 46117 GeneCards: GPATCH8
Orthologs
SpeciesHumanMouse
Entrez

23131

237943

Ensembl

ENSG00000186566

ENSMUSG00000034621

UniProt

Q9UKJ3

A2A6A1

RefSeq (mRNA)

NM_001159492

RefSeq (protein)

NP_001152964

Location (UCSC)Chr 17: 44.4 – 44.5 MbChr 11: 102.48 – 102.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.[5][6]

Hyperuricemia

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000186566 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034621 - 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. 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.
  6. "Entrez Gene: GPATCH8 G patch domain containing 8".
  7. 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. S2CID 1075364.

Further reading


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