GPATCH8 explained

G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.^{[1] [2]}

Hyperuricemia

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing^[3]

Further reading

• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Huda Zoghbi . Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration . Cell . 125 . 4 . 801–14 . 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . 13709685 . free .
• Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R . Phosphoproteome analysis of the human mitotic spindle . Proc. Natl. Acad. Sci. U.S.A. . 103 . 14 . 5391–6 . 2006 . 16565220 . 1459365 . 10.1073/pnas.0507066103 . 2006PNAS..103.5391N . free .
• McKinney JL, Murdoch DJ, Wang J, Robinson J, Biltcliffe C, Khan HM, Walker PM, Savage J, Skerjanc I, Hegele RA . Venn analysis as part of a bioinformatic approach to prioritize expressed sequence tags from cardiac libraries . Clin. Biochem. . 37 . 11 . 953–60 . 2005 . 15498521 . 10.1016/j.clinbiochem.2004.07.010 .
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . 2004PNAS..10112130B . free .
• Thornton MA, Poncz M, Korostishevsky M, Yakobson E, Usher S, Seligsohn U, Peretz H . The human platelet alphaIIb gene is not closely linked to its integrin partner beta3 . Blood . 94 . 6 . 2039–47 . 1999 . 10477733 . 10.1182/blood.V94.6.2039.

Notes and References

1. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . 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 . Aug 1998 . 9628581 . 10.1093/dnares/5.1.31 . free .
2. Web site: Entrez Gene: GPATCH8 G patch domain containing 8.
3. Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K . Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8 . Hum. Genet. . 130 . 5 . 671–83 . Nov 2011 . 21594610 . 10.1007/s00439-011-1006-9 . 1075364 .