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The official name of this gene is “prosaposin.”
PSAP is the gene's official symbol. The PSAP gene is also known by other names, listed below.
The PSAP gene provides instructions for making a protein called prosaposin. This protein is involved in a number of biological functions, including the development of the nervous system and the reproductive system. Prosaposin is the precursor of four smaller proteins called saposin A, B, C, and D, which are produced when prosaposin is broken up (cleaved).
The individual saposins are found in cellular structures called lysosomes, which are the cell's recycling centers. The saposins help lysosomal enzymes break down fatty substances called sphingolipids.
The saposin B protein works with several enzymes to break down sphingolipids. Its most critical biological role seems to be associated with the enzyme arylsulfatase A. This enzyme is involved in breaking down a subgroup of sphingolipids called sulfatides, especially in the nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is a substance that insulates and protects nerves. Saposin B may also play a role in transporting lipids to the outer surface of the cell so they can be recognized by the immune system.
The saposin C protein works with the enzyme beta-glucocerebrosidase to break down another sphingolipid called glucocerebroside. Saposins A and D are also involved in processing sphingolipids.
The PSAP gene belongs to a family of genes called endogenous ligands (endogenous ligands).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
In a small number of individuals with metachromatic leukodystrophy, a disorder that causes deterioration of nervous system functions, researchers have identified PSAP gene mutations that result in a shortage (deficiency) of the saposin B protein. This deficiency interferes with the breakdown of sulfatides. As a result, these substances can accumulate to toxic levels in the nervous system.
The buildup of sulfatides gradually destroys myelin, the covering that protects nerves and promotes the efficient transmission of nerve impulses. Destruction of myelin leads to a loss of white matter (leukodystrophy) and impairment of nervous system function, resulting in the signs and symptoms of metachromatic leukodystrophy.
In a few individuals, mutations in the PSAP gene interfere with the function of the saposin C protein, resulting in a disorder that resembles a severe form of Gaucher disease. Signs and symptoms of this condition include neurological problems and abnormal enlargement of the liver and spleen (hepatosplenomegaly). Without adequate saposin C activator protein, the glucocerebrosidase enzyme cannot break down glucocerebroside effectively. As a result, glucocerebroside accumulates in the body's tissues as it does in the classic form of Gaucher disease. A few PSAP gene mutations have also been identified in individuals with signs and symptoms resembling another leukodystrophy called Krabbe disease.
In addition, a few mutations in the PSAP gene have been identified that prevent the production of more than one of the saposin proteins. Individuals with these mutations have massive accumulation of sphingolipids in their nervous system and other organs. This accumulation results in very severe neurological disease, respiratory problems, and hepatosplenomegaly.
Cytogenetic Location: 10q21-q22
Molecular Location on chromosome 10: base pairs 71,816,297 to 71,851,324
The PSAP gene is located on the long (q) arm of chromosome 10 between positions 21 and 22.
More precisely, the PSAP gene is located from base pair 71,816,297 to base pair 71,851,324 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about PSAP helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
breakdown ; cell ; deficiency ; enzyme ; gene ; hepatosplenomegaly ; immune system ; leukodystrophy ; nervous system ; neurological ; precursor ; protein ; respiratory ; toxic ; white matter
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.