GENE NAME | NDST1 |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000070614 |
ENTREZ ID | 3340 |
UNIPROT ACCESSION NUMBER | P52848 |
GO MOLECULAR FUNCTION | N-acetylglucosamine deacetylase activity; deacetylase activity; transferase activity; sulfotransferase activity; hydrolase activity; catalytic activity; [heparan sulfate]-glucosamine N-sulfotransferase activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1638091; R-HSA-71387; R-HSA-1430728; R-HSA-2022928; hsa01100; hsa00534; R-HSA-1630316 |
2 combinations linked to NDST1 | OLI678; OLI679 |
2 variants linked to NDST1 | NDST1:p.Arg80His; NDST1:p.Arg132Cys |
1 disease linked to NDST1 | Holoprosencephaly |