GENE NAME | SLC22A5 |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000197375 |
ENTREZ ID | 6584 |
UNIPROT ACCESSION NUMBER | O76082 |
GO MOLECULAR FUNCTION | (R)-carnitine transmembrane transporter activity; protein binding; xenobiotic transmembrane transporter activity; carnitine transmembrane transporter activity; PDZ domain binding; quaternary ammonium group transmembrane transporter activity; symporter activity; ATP binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-382551; R-HSA-1430728; R-HSA-5619053; R-HSA-5619102; R-HSA-425366; R-HSA-556833; R-HSA-5619115; hsa05231; R-HSA-1643685; R-HSA-425407; R-HSA-8978868; R-HSA-200425; R-HSA-549127; R-HSA-549132 |
1 combination linked to SLC22A5 | OLI924 |
1 variant linked to SLC22A5 | SLC22A5:c.77G>A, p.Ser26Asn |
1 disease linked to SLC22A5 | Transposition of the great arteries |