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 |