DISEASES

Disease-gene associations mined from literature

Literature associating SLC22A5 and systemic primary carnitine deficiency disease

SLC22A5 [ENSP00000245407]

Solute carrier family 22 (organic cation/carnitine transporter), member 5; Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3; Solute carriers

Synonyms:  SLC22A5,  SLC22A5p,  hSLC22A5,  F8WCC9,  H7BZC0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM