DISEASES

Disease-gene associations mined from literature

Literature associating SLC22A16 and rhizomelic chondrodysplasia punctata type 3

SLC22A16 [ENSP00000357915]

Solute carrier family 22 member 16; High affinity carnitine transporter; the uptake is partially sodium-ion dependent. Thought to mediate the L-carnitine secretion mechanism from testis epididymal epithelium into the lumen which is involved in the maturation of spermatozoa. Also transports organic cations such as tetraethylammonium (TEA) and doxorubicin. The uptake of TEA is inhibited by various organic cations. The uptake of doxorubicin is sodium-independent; Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.

Synonyms:  SLC22A16,  A0A0K0K1K9,  C9JGT0,  C9JTF8,  C9JU94 ...

Linkouts:  STRING  Pharos  UniProt  OMIM