Disease-gene associations mined from literature

Literature associating SLC13A5 and early infantile epileptic encephalopathy 25

SLC13A5 [ENSP00000406220]

Solute carrier family 13 (sodium-dependent citrate transporter), member 5; High-affinity sodium/citrate cotransporter that mediates citrate entry into cells. The transport process is electrogenic; it is the trivalent form of citrate rather than the divalent form that is recognized as a substrate. May facilitate the utilization of circulating citrate for the generation of metabolic energy and for the synthesis of fatty acids and cholesterol; Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily.

Synonyms:  SLC13A5,  SLC13A5p,  hSLC13A5,  DKFZP686E17257,  F8W7N2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM