GENE NAME | IDUA |
CHROMOSOME | 4 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000127415 |
UNIPROT ACCESSION NUMBER | P35475 |
GO MOLECULAR FUNCTION | ['hydrolase activity, hydrolyzing O-glycosyl compounds', 'signaling receptor binding', 'L-iduronidase activity'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa00531; hsa01100; hsa04142; R-HSA-1430728; R-HSA-1630316; R-HSA-1638091; R-HSA-1643685; R-HSA-1793185; R-HSA-2024096; R-HSA-2024101; R-HSA-2206281; R-HSA-2206302; R-HSA-5663084; R-HSA-5668914; R-HSA-71387 |
4 combinations linked to IDUA | OLI1695; OLI1681; OLI1684; OLI1687 |
4 variants linked to IDUA | IDUA:c.299+2092C>T, ; IDUA:c.806C>G, p.Ser269Cys; IDUA:c.30_31insCTGGCGCTC, p.Leu11_Ala12insAlaLeuLeu; IDUA:c.1354C>A, p.Arg452Ser |
1 disease linked to IDUA | Non-Syndromic genetic keratoconus |