Details for Gene XK

GENE NAME XK
CHROMOSOME X
ENSEMBL ID ENSG00000047597
ENTREZ ID 7504
UNIPROT ACCESSION NUMBER P51811
GO MOLECULAR FUNCTION transporter activity; protein binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-373076; R-HSA-500792; R-HSA-162582; R-HSA-372790; R-HSA-375276; R-HSA-162582; R-HSA-372790; R-HSA-500792; R-HSA-373076; R-HSA-375276
1 combination linked to XK OLI332
1 variant linked to XK XK:c.1108T>G, p.Tyr370Asp
1 disease linked to XK Amyotrophic lateral sclerosis

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