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 |