DISEASES

Disease-gene associations mined from literature

Literature associating SLC25A1 and chromosome 6q24-q25 deletion syndrome

SLC25A1 [ENSP00000215882]

Tricarboxylate transport protein, mitochondrial; Citrate transporter that mediates the exchange of mitochondrial citrate for cytosolic malate (PubMed:29031613, PubMed:29238895). Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis- but not trans-aconitate and to a lesser extend maleate and succinate . Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway. Required for proper neuromuscular junction formation (Probable).

Synonyms:  SLC25A1,  SLC25A1p,  hSLC25A1,  B4DP62,  P53007 ...

Linkouts:  STRING  Pharos  UniProt  OMIM