Details for Gene IDUA

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; OLI1687; OLI1684; OLI1681
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

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