Reviewed July 2010
What is the official name of the GNPAT gene?
The official name of this gene is “glyceronephosphate O-acyltransferase.”
GNPAT is the gene's official symbol. The GNPAT gene is also known by other names, listed below.
What is the normal function of the GNPAT gene?
The GNPAT gene provides instructions for making an enzyme known as glyceronephosphate O-acyltransferase (GNPAT) or dihydroxyacetonephosphate acyltransferase (DHAPAT). 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, the DHAPAT enzyme is responsible for the first 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 GNPAT gene related to health conditions?
- rhizomelic chondrodysplasia punctata - caused by mutations in the GNPAT gene
At least five mutations in the GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations prevent cells from making any functional DHAPAT enzyme. A shortage of this enzyme 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 RCDP2.
Where is the GNPAT gene located?
Cytogenetic Location: 1q42
Molecular Location on chromosome 1: base pairs 231,241,173 to 231,277,973
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/8443))
The GNPAT gene is located on the long (q) arm of chromosome 1 at position 42.
More precisely, the GNPAT gene is located from base pair 231,241,173 to base pair 231,277,973 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about GNPAT?
You and your healthcare professional may find the following resources about GNPAT helpful.
Educational resources - Information pages
- Madame Curie Bioscience Database: The Biogenesis and Cell Biology of Peroxisomes in Human Health and Disease (http://www.ncbi.nlm.nih.gov/books/NBK6339/)
- The Cell: A Molecular Approach (second edition, 2000): Peroxisomes (http://www.ncbi.nlm.nih.gov/books/NBK9930/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for GNPAT (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8443%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28GNPAT%5BTIAB%5D%29%20OR%20%28glyceronephosphate%20O-acyltransferase%5BTIAB%5D%29%29%20OR%20%28%28dihydroxyacetone%20phosphate%20acyltransferase%5BTIAB%5D%29%20OR%20%28DHAPAT%5BTIAB%5D%29%20OR%20%28dihydroxyacetonephosphate%20acyltransferase%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/602744)
Research Resources - Tools for researchers
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=4416)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8443)
What other names do people use for the GNPAT gene or gene products?
- dihydroxyacetone phosphate acyltransferase
- glycerone-phosphate O-acyltransferase
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding GNPAT?
free radicals ;
nervous system ;
oxidative stress ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Liu D, Nagan N, Just WW, Rodemer C, Thai TP, Zoeller RA. Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids. J Lipid Res. 2005 Apr;46(4):727-35. Epub 2005 Feb 1. (http://www.ncbi.nlm.nih.gov/pubmed/15687349?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8443)
- Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998 May;7(5):847-53. (http://www.ncbi.nlm.nih.gov/pubmed/9536089?dopt=Abstract)
- Ofman R, Lajmir S, Wanders RJ. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. Biochem Biophys Res Commun. 2001 Mar 2;281(3):754-60. (http://www.ncbi.nlm.nih.gov/pubmed/11237722?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/11152660?dopt=Abstract)
- Wanders RJ, Schumacher H, Heikoop J, Schutgens RB, Tager JM. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. J Inherit Metab Dis. 1992;15(3):389-91. (http://www.ncbi.nlm.nih.gov/pubmed/1405476?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.