Phosphatidate cytidylyltransferase, mitochondrial (TAMM41)

Phosphatidate cytidylyltransferase, mitochondrial (TAMM41) is an enzyme localized in the mitochondrial matrix, required for the biosynthesis of cardiolipin, an essential mitochondrial phospholipid involved in membrane integrity and function[4][8]. TAMM41 catalyzes the CDP-diacylglycerol synthesis step in the cardiolipin pathway, and is conserved from yeast (TAM41) to humans[4]. Mutations or loss of TAMM41 function are associated with combined oxidative phosphorylation deficiency 56 (COXPD56), a mitochondrial disorder marked by defects in cardiolipin synthesis resulting in impaired mitochondrial respiratory chain function[7]. This protein is not currently a direct therapeutic target or receptor, but its role in mitochondrial pathophysiology is clinically relevant.

Other names

TAM41 mitochondrial translocator assembly and maintenance homologC3orf31DKFZp434E0519MGC16471RAM41CDP-diacylglycerol synthaseCDP-DAG synthaseMitochondrial translocator assembly and maintenance protein 41 homologMMP37-like proteinCOXPD56