Details for Gene GH1

GENE NAME GH1
CHROMOSOME 17
ENSEMBL ID ENSG00000259384
ENTREZ ID 2688
UNIPROT ACCESSION NUMBER P01241
GO MOLECULAR FUNCTION prolactin receptor binding; growth hormone receptor binding; metal ion binding; growth factor activity; hormone activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04935; R-HSA-982772; hsa04151; R-HSA-168256; hsa04060; hsa04060; hsa04151; R-HSA-1170546; R-HSA-2980736; R-HSA-392499; hsa04935; hsa04080; hsa04630; R-HSA-422085; hsa04630; R-HSA-1280215; hsa04080
1 combination linked to GH1 OLI899
1 variant linked to GH1 GH1:c.440T>C, p.Ile147Thr
1 disease linked to GH1 Normosmic congenital hypogonadotropic hypogonadism

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