Details for Gene NRP1

GENE NAME NRP1
CHROMOSOME 10
ENSEMBL ID ENSG00000099250
ENTREZ ID 8829
UNIPROT ACCESSION NUMBER O14786
GO MOLECULAR FUNCTION vascular endothelial growth factor-activated receptor activity; protein binding; metal ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-162582; hsa05171; R-HSA-399956; hsa04360; R-HSA-376176; R-HSA-373755; R-HSA-422475; R-HSA-194138; R-HSA-373760; R-HSA-399954; R-HSA-445144; R-HSA-9675108; R-HSA-447041; hsa05166; R-HSA-194306; R-HSA-1266738; R-HSA-9006934; R-HSA-399955
4 combinations linked to NRP1 OLI602; OLI652; OLI913; OLI857
3 variants linked to NRP1 NRP1:c.2504G>A, p.Gly835Asp; NRP1:c.2222G>A, p.Arg741His; NRP1:c.418A>C, p.Ile140Leu
4 diseases linked to NRP1 Normosmic congenital hypogonadotropic hypogonadism; Disorder of sex development; Kallmann syndrome; Congenital hypogonadotropic hypogonadism

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