Details for Gene IFT122

GENE NAME IFT122
CHROMOSOME 3
ENSEMBL ID ENSG00000163913
ENTREZ ID 55764
UNIPROT ACCESSION NUMBER Q9HBG6
GO MOLECULAR FUNCTION protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-5617833; R-HSA-1852241; R-HSA-5358351; R-HSA-162582; R-HSA-5610787; R-HSA-5620924
1 combination linked to IFT122 OLI295
1 variant linked to IFT122 IFT122:c.1453G>A, p.Gly485Ser
1 disease linked to IFT122 Adolescent idiopathic scoliosis

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