GENE NAME | DCAF17 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000115827 |
UNIPROT ACCESSION NUMBER | Q5H9S7 |
GO MOLECULAR FUNCTION | ['protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-392499; R-HSA-597592; R-HSA-8951664 |
5 combinations linked to DCAF17 | OLI886; OLI1556; OLI1547; OLI1575; OLI849 |
4 variants linked to DCAF17 | DCAF17:c.1507T>C, p.Tyr503His; DCAF17:c.579C>A, p.Phe193Leu; DCAF17:c.1422+3G>A, ; DCAF17:c.1547T>C, p.Ile516Thr |
3 diseases linked to DCAF17 | 46,XY disorder of sex development; Kallmann syndrome; Syndrome with 46,XY disorder of sex development |