Details for Gene SLC7A9

GENE NAME SLC7A9
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000021488
UNIPROT ACCESSION NUMBER P82251
GO MOLECULAR FUNCTION ['L-cystine transmembrane transporter activity', 'L-amino acid transmembrane transporter activity', 'protein binding', 'neutral amino acid transmembrane transporter activity', 'peptide antigen binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04974; R-HSA-109582; R-HSA-1643685; R-HSA-202733; R-HSA-210991; R-HSA-352230; R-HSA-382551; R-HSA-425393; R-HSA-425407; R-HSA-5619102; R-HSA-5619113; R-HSA-5619115; R-HSA-5660883
6 combinations linked to SLC7A9 OLI178; OLI180; OLI181; OLI1612; OLI166; OLI179
4 variants linked to SLC7A9 SLC7A9:c.789+2T>C, ; SLC7A9:c.311G>A, p.Gly105Arg; SLC7A9:c.695A>G, p.Tyr232Cys; SLC7A9:c.829G>A, p.Val277Met
2 diseases linked to SLC7A9 Dent disease; Cystinuria

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