Details for Gene TPH2

GENE NAME TPH2
CHROMOSOME 12
ENSEMBL ID ENSG00000139287
ENTREZ ID 121278
UNIPROT ACCESSION NUMBER Q8IWU9
GO MOLECULAR FUNCTION iron ion binding; tryptophan 5-monooxygenase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1430728; hsa00380; R-HSA-209776; R-HSA-71291; hsa00790; hsa01100; R-HSA-209931; hsa04726
1 combination linked to TPH2 OLI932
1 variant linked to TPH2 TPH2:c.775C>T, p.Gln259Ter
1 disease linked to TPH2 Rare pervasive developmental disorder

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