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The official name of this gene is “serpin peptidase inhibitor, clade I (neuroserpin), member 1.”
SERPINI1 is the gene's official symbol. The SERPINI1 gene is also known by other names, listed below.
The SERPINI1 gene provides instructions for making a protein called neuroserpin, which is a type of serine protease inhibitor (serpin). Serpins help control several kinds of chemical reactions by blocking (inhibiting) the activity of certain proteins. Neuroserpin inhibits the activity of an enzyme called tissue plasminogen activator (tPA), which plays a role in cell movement (migration), blood clotting, and inflammation.
As its name suggests, neuroserpin is involved in the development and function of the nervous system. This protein helps control the growth of nerve cells (neurons), particularly specialized extensions called axons that are required for the transmission of nerve impulses. Neuroserpin also plays a role in the development of synapses, which are the connections between neurons where cell-to-cell communication occurs. Synapses can change and adapt over time in response to experience, a characteristic called synaptic plasticity. Neuroserpin helps regulate synaptic plasticity, which suggests that it may be important for learning and memory.
The SERPINI1 gene belongs to a family of genes called SERPIN (serine (or cysteine) peptidase inhibitors).
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.
At least four mutations in the SERPINI1 gene have been found to cause familial encephalopathy with neuroserpin inclusion bodies (FENIB). Each of these mutations changes a single protein building block (amino acid) used to make the neuroserpin protein. These changes result in the production of an abnormally shaped, unstable version of neuroserpin. Within neurons, defective neuroserpin proteins can attach to one another and form clumps called neuroserpin inclusion bodies or Collins bodies. These clumps disrupt the cells' normal functioning and ultimately lead to cell death. The gradual loss of neurons in certain parts of the brain causes progressive dementia in people with FENIB.
SERPINI1 mutations also reduce or eliminate the ability of neuroserpin to inhibit tPA in neurons. Researchers believe that unchecked activity of tPA may also contribute to the signs and symptoms of this condition.
Some SERPINI1 mutations cause more severe forms of FENIB than others. The severity of the disease and its age of onset are correlated with the number of Collins bodies within neurons. One mutation, known as neuroserpin Syracuse, is associated with a moderate form of the disorder that causes a progressive decline in intellectual functioning beginning in a person's forties or fifties. This genetic change replaces the amino acid serine with the amino acid proline at position 49 in the neuroserpin protein (written as Ser49Pro or S49P).
Other SERPINI1 mutations cause a more severe form of FENIB that is characterized by seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. One of these severe mutations, called neuroserpin Portland, replaces the amino acid serine with the amino acid arginine at position 52 in the neuroserpin protein (written as Ser52Arg or S52R). Another mutation replaces the amino acid glycine with one of two other amino acids, glutamic acid or arginine, at protein position 392. (These mutations are written as Gly392Glu and Gly392Arg, respectively.) Children with one of these genetic changes experience a very severe form of the disorder that includes a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy) and delayed development.
Cytogenetic Location: 3q26.1
Molecular Location on chromosome 3: base pairs 167,735,228 to 167,825,568
The SERPINI1 gene is located on the long (q) arm of chromosome 3 at position 26.1.
More precisely, the SERPINI1 gene is located from base pair 167,735,228 to base pair 167,825,568 on chromosome 3.
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 SERPINI1 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.
acids ; amino acid ; arginine ; axons ; blood clotting ; cell ; clotting ; cysteine ; dementia ; encephalopathy ; enzyme ; epilepsy ; familial ; gene ; glutamic acid ; glycine ; inclusion bodies ; inflammation ; involuntary ; mutation ; myoclonus ; nervous system ; plasticity ; proline ; protease ; protein ; proteinase ; serine ; tissue
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.