TAMM41
Function
Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol.
Involvement in disease
Combined oxidative phosphorylation deficiency 56
COXPD56
An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis.
None
The disease may be caused by variants affecting the gene represented in this entry.
Pathway
Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 3/3.
Sequence Similarities
Belongs to the TAM41 family.
Cellular localization
- Mitochondrion inner membrane
- Peripheral membrane protein
- Matrix side
Alternative names
C3orf31, TAMM41, CDP-diacylglycerol synthase, Mitochondrial translocator assembly and maintenance protein 41 homolog, CDP-DAG synthase, TAM41