Details for Gene PRKD1

GENE NAME PRKD1
CHROMOSOME 14
ENSEMBL ID ENSG00000184304
ENTREZ ID 5587
UNIPROT ACCESSION NUMBER Q15139
GO MOLECULAR FUNCTION protein serine/threonine kinase activity; protein binding; protein kinase C activity; kinase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-556833; hsa04015; R-HSA-428157; R-HSA-1430728; R-HSA-1660661; hsa04925
1 combination linked to PRKD1 OLI555
1 variant linked to PRKD1 PRKD1:c.646C>G, p.Arg216Gly
1 disease linked to PRKD1 Normosmic congenital hypogonadotropic hypogonadism

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