Details for Gene ROBO3

GENE NAME ROBO3
CHROMOSOME 11
ENSEMBL ID ENSG00000154134
ENTREZ ID 64221
UNIPROT ACCESSION NUMBER Q96MS0
GO MOLECULAR FUNCTION protein binding; cell-cell adhesion mediator activity
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04360
4 combinations linked to ROBO3 OLI900; OLI862; OLI892; OLI888
4 variants linked to ROBO3 ROBO3:c.3742C>T, p.Arg1248Ter; ROBO3:c.2763G>C, p.Glu921Asp; ROBO3:c.2108G>A, p.Arg703Gln; ROBO3:c.2171C>A, p.Pro724Gln
2 diseases linked to ROBO3 Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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