DISEASES

Disease-gene associations mined from literature

Literature associating SLC22A2 and systemic primary carnitine deficiency disease

SLC22A2 [ENSP00000355920]

Solute carrier family 22 (organic cation transporter), member 2; Mediates tubular uptake of organic compounds from circulation. Mediates the influx of agmatine, dopamine, noradrenaline (norepinephrine), serotonin, choline, famotidine, ranitidine, histamin, creatinine, amantadine, memantine, acriflavine, 4-[4-(dimethylamino)-styryl]-N-methylpyridinium ASP, amiloride, metformin, N-1-methylnicotinamide (NMN), tetraethylammonium (TEA), 1-methyl-4-phenylpyridinium (MPP), cimetidine, cisplatin and oxaliplatin. Cisplatin may develop a nephrotoxic action. Transport of creatinine is inhibited by fluoroquinolones such as DX-619 and LVFX. This transporter is a major determinant of the anticancer activity of oxaliplatin and may contribute to antitumor specificity; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.

Synonyms:  SLC22A2,  SLC22A2p,  hSLC22A2,  O15244,  Q5T7Q5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM