AGPS
Function
Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis.
Involvement in disease
Rhizomelic chondrodysplasia punctata 3
RCDP3
A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Glycerolipid metabolism; ether lipid biosynthesis.
Sequence Similarities
Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Cellular localization
- Peroxisome membrane
- Peroxisome
Alternative names
AAG5, AGPS, Alkyl-DHAP synthase, Aging-associated gene 5 protein, Alkylglycerone-phosphate synthase