GPATCH8
From Infogalactic: the planetary knowledge core
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G patch domain containing 8 | |||||||||||||
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Identifiers | |||||||||||||
Symbols | GPATCH8 ; GPATC8; KIAA0553 | ||||||||||||
External IDs | OMIM: 614396 HomoloGene: 46117 GeneCards: GPATCH8 Gene | ||||||||||||
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RNA expression pattern | |||||||||||||
File:PBB GE GPATCH8 212485 at tn.png | |||||||||||||
File: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: 44.4 – 44.5 Mb |
Chr 11: 102.48 – 102.56 Mb |
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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
Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing[3]
References
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Further reading
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