Details for Gene RPGRIP1L

GENE NAME RPGRIP1L
CHROMOSOME 16
ENSEMBL ID ENSG00000103494
ENTREZ ID 23322
UNIPROT ACCESSION NUMBER Q68CZ1
GO MOLECULAR FUNCTION thromboxane A2 receptor binding; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-162582; R-HSA-5610787; R-HSA-5620912; R-HSA-5358351; R-HSA-1852241; R-HSA-5617833
1 combination linked to RPGRIP1L OLI291
1 variant linked to RPGRIP1L RPGRIP1L:c.2156C>G, p.Thr719Arg
1 disease linked to RPGRIP1L Adolescent idiopathic scoliosis

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