AGPS is a 658 amino acid enzyme that is required for glycerolipid metabolism and ether lipid biosynthesis. Localized to the inner aspect of the peroxisomal membrane, AGPS is likely part of a heterotrimeric complex that is also composed of GNPAT and a modified form of GNPAT. Containing one FAD-binding PCMH-type domain, AGPS utilizes FAD as a cofactor in the synthesis of alkyl-glycerone 3-phophate and a long-chain acid anion from 1-acteyl-glyerone 3-phosphate and a long-chain alcohol. Defects in the gene encoding AGPS results in rhizomelic chondrodysplasia punctata type 3, a disease characterized by vertebral disorders, severe mental retardation, cutaneous lesions, cataracts and rhizomelic shortening of the humerus and femur.
Synonyms: AAG5, ADAP-S, ADAS, ADAS_HUMAN, ADHAPS, ADPS, Aging associated gene 5 protein, Aging-associated gene 5 protein, AGPS, ALDHPSY, Alkyl-DHAP synthase, Alkyldihydroxyacetonephosphate synthase, Alkyldihydroxyacetonephosphate synthase, peroxisomal, Alkylglycerone phosphate synthase, Alkylglycerone-phosphate synthase, peroxisomal.