Details for Gene SHH

GENE NAME SHH
CHROMOSOME 7
ENSEMBL ID None
ENTREZ ID ENSG00000164690
UNIPROT ACCESSION NUMBER Q15465
GO MOLECULAR FUNCTION ['zinc ion binding', 'patched binding', 'laminin-1 binding', 'calcium ion binding', 'morphogen activity', 'endopeptidase activity', 'protein binding', 'glycosaminoglycan binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04340; hsa04360; hsa05200; hsa05205; hsa05217; hsa05226; R-HSA-162582; R-HSA-1643685; R-HSA-372790; R-HSA-373080; R-HSA-500792; R-HSA-5358346; R-HSA-5358351; R-HSA-5362768; R-HSA-5362798; R-HSA-5387390; R-HSA-5632681; R-HSA-5632684; R-HSA-5635838; R-HSA-5658034; R-HSA-5663202
13 combinations linked to SHH OLI1486; OLI1487; OLI697; OLI686; OLI1503; OLI1552; OLI678; OLI683; OLI407; OLI1578; OLI1085; OLI1538; OLI1086
10 variants linked to SHH SHH:c.1040C>A, p.Pro347Gln; SHH:c.511G>C, p.Asp171His; SHH:p.Phe241Val; SHH:p.Pro347Arg; SHH:c.676G>A, p.Ala226Thr; SHH:c.869G>A, p.Gly290Asp; SHH:c.625C>G, p.Gln209Glu; SHH:c.1367G>C, p.Gly456Ala; SHH:c.423C>A, p.Cys141Ter; SHH:c.277G>A, p.Gly93Arg
5 diseases linked to SHH 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Holoprosencephaly; Congenital hypothyroidism; Craniorachischisis
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