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Reviewed May 2012
What is the official name of the SPR gene?
The official name of this gene is “sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase).”
SPR is the gene's official symbol. The SPR 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 SPR gene?
The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the last of three steps in the production of a molecule called tetrahydrobiopterin (BH4). Other enzymes help carry out the first and second steps in this process. The sepiapterin reductase enzyme converts a molecule called 6-pyruvoyl-tetrahydropterin to tetrahydrobiopterin. Tetrahydrobiopterin helps process several building blocks of proteins (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Specifically, tetrahydrobiopterin is involved in the production of two neurotransmitters called dopamine and serotonin. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite.
Does the SPR gene share characteristics with other genes?
The SPR gene belongs to a family of genes called SDR (short chain dehydrogenase/reductase superfamily).
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 SPR gene related to health conditions?
Where is the SPR gene located?
Cytogenetic Location: 2p14-p12
Molecular Location on chromosome 2: base pairs 72,887,382 to 72,892,159
The SPR gene is located on the short (p) arm of chromosome 2 between positions 14 and 12.
More precisely, the SPR gene is located from base pair 72,887,382 to base pair 72,892,159 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SPR?
You and your healthcare professional may find the following resources about SPR 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 SPR 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 SPR?
acids ; amino acid ; arginine ; cell ; deficiency ; dehydrogenase ; dopamine ; dystonia ; enzyme ; gene ; glycine ; involuntary ; molecule ; mutation ; neurotransmitters ; oxidoreductase ; phenylalanine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.