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 |