GENE NAME | DHCR24 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000116133 |
ENTREZ ID | 1718 |
UNIPROT ACCESSION NUMBER | Q15392 |
GO MOLECULAR FUNCTION | delta24(24-1) sterol reductase activity; delta24-sterol reductase activity; protein binding; enzyme binding; FAD binding; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; peptide antigen binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-8957322; R-HSA-6807047; hsa00100; hsa01100; R-HSA-191273; R-HSA-556833; R-HSA-6807062; R-HSA-1430728 |
1 combination linked to DHCR24 | OLI1047 |
1 variant linked to DHCR24 | DHCR24:c.1046C>G, p.Pro349Arg |
1 disease linked to DHCR24 | Primary ovarian failure |