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Reviewed August 2009
What is the official name of the SERPINA1 gene?
The official name of this gene is “serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1.”
SERPINA1 is the gene's official symbol. The SERPINA1 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 SERPINA1 gene?
The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking (inhibiting) the activity of certain enzymes. Alpha-1 antitrypsin prevents the digestive enzyme trypsin from breaking down proteins until trypsin reaches the intestines. Alpha-1 antitrypsin also inhibits other enzymes, including a powerful enzyme called neutrophil elastase that is released from white blood cells to fight infection.
Alpha-1 antitrypsin protects the lungs from neutrophil elastase, which can damage lung tissue if not properly controlled. Alpha-1 antitrypsin is produced in the liver and then transported to the lungs via the blood.
Does the SERPINA1 gene share characteristics with other genes?
The SERPINA1 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? in the Handbook.
How are changes in the SERPINA1 gene related to health conditions?
Where is the SERPINA1 gene located?
Cytogenetic Location: 14q32.1
Molecular Location on chromosome 14: base pairs 94,376,747 to 94,390,692
The SERPINA1 gene is located on the long (q) arm of chromosome 14 at position 32.1.
More precisely, the SERPINA1 gene is located from base pair 94,376,747 to base pair 94,390,692 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SERPINA1?
You and your healthcare professional may find the following resources about SERPINA1 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 SERPINA1 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 SERPINA1?
acids ; allele ; alveoli ; amino acid ; cysteine ; deficiency ; digestive ; emphysema ; enzyme ; gene ; glutamic acid ; infection ; inflammation ; lysine ; molecule ; mutation ; panniculitis ; protease ; protein ; proteinase ; serine ; tissue ; trypsin ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.