Details for Gene GNRH1

GENE NAME GNRH1
CHROMOSOME 8
ENSEMBL ID None
ENTREZ ID ENSG00000147437
UNIPROT ACCESSION NUMBER P01148
GO MOLECULAR FUNCTION ['hormone activity', 'gonadotropin-releasing hormone receptor binding', 'gonadotropin hormone-releasing hormone activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04080; hsa04912; hsa04929; R-HSA-162582; R-HSA-372790; R-HSA-373076; R-HSA-375281; R-HSA-388396; R-HSA-416476; R-HSA-500792
9 combinations linked to GNRH1 OLI915; OLI1324; OLI373; OLI354; OLI1601; OLI1168; OLI1801; OLI1404; OLI430
8 variants linked to GNRH1 GNRH1:c.41G>A, p.Gly14Asp; GNRH1:c.91C>T, p.Arg31Cys; GNRH1:c.272_274delAGA, p.Lys91del; GNRH1:c.60_61insC, p.Cys21LeufsTer23; GNRH1:c.217C>T, p.Arg73Ter; GNRH1:c.229C>T, p.Arg77Ter; GNRH1:c.141G>C, p.Glu47Asp; GNRH1:c.91C>T, p.Arg31Cys
5 diseases linked to GNRH1 Kallmann syndrome; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Non-acquired combined pituitary hormone deficiency; Congenital hypogonadotropic hypogonadism
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