Disease-gene associations mined from literature

Literature associating AGK and Sengers syndrome

AGK [ENSP00000347581]

Acylglycerol kinase, mitochondrial; Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Independently of its lipid kinase activity, acts as a component of the TIM22 complex. The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochtondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23. Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth; Belongs to the AGK family.

Synonyms:  AGK,  A4D1U5,  E9PC15,  E9PG39,  F8WDD1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM