GENE NAME | SMO |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000128602 |
ENTREZ ID | 6608 |
UNIPROT ACCESSION NUMBER | Q99835 |
GO MOLECULAR FUNCTION | protein binding; patched binding; G protein-coupled receptor activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-373080; R-HSA-5358351; R-HSA-500792; hsa04360; R-HSA-5617833; hsa05200; R-HSA-5632684; hsa05217; R-HSA-1852241; hsa04340; R-HSA-5620920; hsa05205; R-HSA-5635838; R-HSA-162582; R-HSA-372790; R-HSA-5610787; R-HSA-5620922 |
2 combinations linked to SMO | OLI429; OLI930 |
2 variants linked to SMO | SMO:c.1789G>A, p.Asp597Asn; SMO:c.431G>A, p.Arg144His |
2 diseases linked to SMO | Transposition of the great arteries; Kallmann syndrome |