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Normal Function
The AGPS gene provides instructions for making an enzyme known as alkylglycerone phosphate synthase. This enzyme is found in structures called peroxisomes, which are sac-like compartments within cells that contain enzymes needed to break down many different substances. Peroxisomes are also important for the production of fats (lipids) used in digestion and in the nervous system.
Within peroxisomes, alkylglycerone phosphate synthase is responsible for a critical step in the production of lipid molecules called plasmalogens. These molecules are found in cell membranes throughout the body. They are also abundant in myelin, which is the protective substance that covers nerve cells. However, little is known about the functions of plasmalogens. Researchers suspect that these molecules may help protect cells from oxidative stress, which occurs when unstable molecules called free radicals accumulate to levels that damage or kill cells. Plasmalogens may also play important roles in interactions between lipids and proteins, the transmission of chemical signals in cells, and the fusion of cell membranes.
Health Conditions Related to Genetic Changes
Rhizomelic chondrodysplasia punctata
At least three mutations in the AGPS gene have been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations change single protein building blocks (amino acids) in alkylglycerone phosphate synthase, which alters the structure of the enzyme and significantly reduces its activity. A shortage of functional alkylglycerone phosphate synthase disrupts peroxisome function and severely reduces the amount of plasmalogens within cells. It is unclear how these abnormalities lead to shortened long bones, intellectual disability, and the other characteristic features of RCDP3.
More About This Health ConditionOther Names for This Gene
- ADAP-S
- ADAS_HUMAN
- ADHAPS
- alkyl-DHAP synthase
- alkyl-dihydroxyacetone phosphate synthase
- alkyldihydroxyacetone phosphate synthetase
- alkyldihydroxyacetonephosphate synthase, peroxisomal
- alkylglycerone-phosphate synthase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- de Vet EC, Ijlst L, Oostheim W, Wanders RJ, van den Bosch H. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. J Biol Chem. 1998 Apr 24;273(17):10296-301. doi: 10.1074/jbc.273.17.10296. Citation on PubMed
- Thai TP, Rodemer C, Jauch A, Hunziker A, Moser A, Gorgas K, Just WW. Impaired membrane traffic in defective ether lipid biosynthesis. Hum Mol Genet. 2001 Jan 15;10(2):127-36. doi: 10.1093/hmg/10.2.127. Citation on PubMed
- van den Bosch H, de Vet EC. Alkyl-dihydroxyacetonephosphate synthase. Biochim Biophys Acta. 1997 Sep 4;1348(1-2):35-44. doi: 10.1016/s0005-2760(97)00107-0. Citation on PubMed
- Wanders RJ, Dekker C, Hovarth VA, Schutgens RB, Tager JM, Van Laer P, Lecoutere D. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. J Inherit Metab Dis. 1994;17(3):315-8. doi: 10.1007/BF00711817. No abstract available. Citation on PubMed
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