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AGPS

AGPS

Reviewed July 2010

What is the official name of the AGPS gene?

The official name of this gene is “alkylglycerone phosphate synthase.”

AGPS is the gene's official symbol. The AGPS gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the AGPS gene?

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.

How are changes in the AGPS gene related to health conditions?

rhizomelic chondrodysplasia punctata - caused by mutations in the AGPS gene

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.

Where is the AGPS gene located?

Cytogenetic Location: 2q31.2

Molecular Location on chromosome 2: base pairs 177,392,742 to 177,543,835

The AGPS gene is located on the long (q) arm of chromosome 2 at position 31.2.

The AGPS gene is located on the long (q) arm of chromosome 2 at position 31.2.

More precisely, the AGPS gene is located from base pair 177,392,742 to base pair 177,543,835 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about AGPS?

You and your healthcare professional may find the following resources about AGPS helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the AGPS gene or gene products?

  • ADAP-S
  • ADAS_HUMAN
  • ADHAPS
  • alkyl-DHAP synthase
  • alkyl-dihydroxyacetone phosphate synthase
  • alkyldihydroxyacetonephosphate synthase, peroxisomal
  • alkyldihydroxyacetone phosphate synthetase
  • alkylglycerone-phosphate synthase

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding AGPS?

acids ; cell ; digestion ; disability ; enzyme ; free radicals ; gene ; glycolipids ; lipid ; nervous system ; oxidative stress ; peroxisomes ; phosphate ; phospholipids ; protein ; stress

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: July 2010
Published: October 20, 2014