Official Full Name
alkylglycerone phosphate synthase
Defects in AGPS are the cause of rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]. RCDP3 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.
AGPS; alkylglycerone phosphate synthase; ADAS; ADPS; ADAP-S; ADHAPS; ALDHPSY; alkyldihydroxyacetonephosphate synthase, peroxisomal; alkyl-DHAP synthase; aging-associated protein 5; aging-associated gene 5 protein; alkylglycerone-phosphate synthase; EC 22.214.171.124; fd16e06; zgc:56718; wu:fd16e06