Details for Gene CASR

GENE NAME CASR
CHROMOSOME 3
ENSEMBL ID ENSG00000036828
ENTREZ ID 846
UNIPROT ACCESSION NUMBER P41180
GO MOLECULAR FUNCTION G protein-coupled receptor activity; phosphatidylinositol phospholipase C activity; metal ion binding; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-388396; R-HSA-420499; R-HSA-416476; R-HSA-500792; hsa04621; R-HSA-162582; R-HSA-372790; hsa04928; R-HSA-418594
1 combination linked to CASR OLI881
1 variant linked to CASR CASR:c.1315C>G, p.Pro439Ala
1 disease linked to CASR Kallmann syndrome

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