DISEASES

Disease-gene associations mined from literature

Literature associating SLC25A12 and early infantile epileptic encephalopathy 39

SLC25A12 [ENSP00000388658]

Solute carrier family 25 (aspartate/glutamate carrier), member 12; Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle; Belongs to the mitochondrial carrier (TC 2.A.29) family.

Synonyms:  SLC25A12,  B4DGK6,  F8W9J0,  H0YFB2,  O75746 ...

Linkouts:  STRING  Pharos  UniProt  OMIM