GENE NAME | CEP41 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000106477 |
ENTREZ ID | 95681 |
UNIPROT ACCESSION NUMBER | Q9BYV8 |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-380284; R-HSA-69275; R-HSA-380284; R-HSA-69275; R-HSA-1640170; R-HSA-1640170; R-HSA-380270; R-HSA-380270; R-HSA-380287; R-HSA-5620912; R-HSA-380287; R-HSA-5620912; R-HSA-8854518; R-HSA-8854518; R-HSA-380320; R-HSA-5617833; R-HSA-380320; R-HSA-5617833; R-HSA-1852241; R-HSA-1852241; R-HSA-2565942; R-HSA-453274; R-HSA-2565942; R-HSA-453274; R-HSA-68877; R-HSA-69278; R-HSA-69278; R-HSA-68877; R-HSA-68886; R-HSA-380259; R-HSA-380259; R-HSA-68886 |
4 combinations linked to CEP41 | OLI244; OLI246; OLI247; OLI245 |
4 variants linked to CEP41 | CEP41:c.423-2A>C, ; CEP41:c.536G>A, p.Arg179His; CEP41:c.107C>T, p.Met36Thr; CEP41:c.1078C>T, p.Arg360Cys |
1 disease linked to CEP41 | Joubert syndrome |