GPATCH8

From Wikipedia, the free encyclopedia
Jump to: navigation, search
G patch domain containing 8
Identifiers
Symbols GPATCH8 ; GPATC8; KIAA0553
External IDs OMIM614396 HomoloGene46117 GeneCards: GPATCH8 Gene
RNA expression pattern
PBB GE GPATCH8 212485 at tn.png
PBB GE GPATCH8 212487 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23131 237943
Ensembl ENSG00000186566 ENSMUSG00000034621
UniProt Q9UKJ3 A2A6A1
RefSeq (mRNA) NM_001002909 NM_001159492
RefSeq (protein) NP_001002909 NP_001152964
Location (UCSC) Chr 17:
42.47 – 42.58 Mb
Chr 11:
102.48 – 102.56 Mb
PubMed search [1] [2]

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


Hyperuricemia[edit]

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

References[edit]

  1. ^ 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. 
  2. ^ "Entrez Gene: GPATCH8 G patch domain containing 8". 
  3. ^ Kaneko, Hiroshi; Kitoh Hiroshi; Matsuura Tohru; Masuda Akio; Ito Mikako; Mottes Monica; Rauch Frank; Ishiguro Naoki; Ohno Kinji (Nov 2011). "Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8". Hum. Genet. (Germany) 130 (5): 671–83. doi:10.1007/s00439-011-1006-9. PMID 21594610. 

Further reading[edit]