DISEASES

Disease-gene associations mined from literature

Literature associating SLC22A4 and systemic primary carnitine deficiency disease

SLC22A4 [ENSP00000200652]

Solute carrier family 22 (organic cation/zwitterion transporter), member 4; Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET); Deafness associated genes

Synonyms:  SLC22A4,  SLC22A4p,  hSLC22A4,  D9N2T6,  Q9H015 ...

Linkouts:  STRING  Pharos  UniProt  OMIM