Details for Gene DHCR24

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

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