Details for Gene P3H2

GENE NAME P3H2
CHROMOSOME 3
ENSEMBL ID None
ENTREZ ID ENSG00000090530
UNIPROT ACCESSION NUMBER Q8IVL5
GO MOLECULAR FUNCTION ['procollagen-proline 3-dioxygenase activity', 'L-ascorbic acid binding', 'iron ion binding']
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-1474244; R-HSA-1474290; R-HSA-1650814
1 combination linked to P3H2 OLI1671
1 variant linked to P3H2 P3H2:c.278C>T, p.Pro93Leu
1 disease linked to P3H2 Bardet-Biedl syndrome

Found any issues with the data on this page? Report this entry.