Details for Gene SMO

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 OLI930; OLI429
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

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