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Reviewed July 2010
What is the official name of the PEX7 gene?
The official name of this gene is “peroxisomal biogenesis factor 7.”
PEX7 is the gene's official symbol. The PEX7 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 PEX7 gene?
The PEX7 gene provides instructions for making a protein called peroxisomal biogenesis factor 7, which is part of a group known as the peroxisomal assembly (PEX) proteins. Within cells, PEX proteins are responsible for importing certain enzymes into structures called peroxisomes. The enzymes in these sac-like compartments break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production (synthesis) of fats (lipids) used in digestion and in the nervous system.
Peroxisomal biogenesis factor 7 transports several enzymes that are essential for the normal assembly and function of peroxisomes. The most important of these enzymes is alkylglycerone phosphate synthase (produced from the AGPS gene). This enzyme is required for the synthesis of specialized lipid molecules called plasmalogens, which are present in cell membranes throughout the body. Peroxisomal biogenesis factor 7 also transports the enzyme phytanoyl-CoA hydroxylase (produced from the PHYH gene). This enzyme helps process a type of fatty acid called phytanic acid, which is obtained from the diet. Phytanic acid is broken down through a multistep process into smaller molecules that the body can use for energy.
Does the PEX7 gene share characteristics with other genes?
The PEX7 gene belongs to a family of genes called WDR (WD repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the PEX7 gene related to health conditions?
Where is the PEX7 gene located?
Cytogenetic Location: 6q23.3
Molecular Location on chromosome 6: base pairs 136,822,220 to 136,913,934
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The PEX7 gene is located on the long (q) arm of chromosome 6 at position 23.3.
More precisely, the PEX7 gene is located from base pair 136,822,220 to base pair 136,913,934 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PEX7?
You and your healthcare professional may find the following resources about PEX7 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 PEX7 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 PEX7?
acids ; amino acid ; cell ; CoA ; digestion ; disability ; enzyme ; fatty acids ; gene ; leucine ; lipid ; mutation ; nervous system ; oxidation ; peroxisomes ; phosphate ; protein ; receptor ; synthesis ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.