SERPINA1 gene: MedlinePlus Genetics
The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin). Learn about this gene and related health conditions.
Alpha-1 antitrypsin - Wikipedia
Alpha-1 antitrypsin or α1-antitrypsin (A1AT, α1AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known …
Alpha-1 Antitrypsin Deficiency: Causes, Symptoms & Treatment
Oct 18, 2022 · Differences (mutations) in a specific gene cause Alpha-1 antitrypsin deficiency. The SERPINA1 gene makes a protein called Alpha-1 antitrypsin (AAT) that protects your lungs from …
Variants of SERPINA1 and the increasing complexity of testing for …
The SERPINA1 gene that encodes alpha-1 antitrypsin (AAT) is a highly polymorphic 12.2kb gene clustered with other serpin genes on the long arm of chromosome 14 at position 32.13 (14q32.13), …
SERPINA1 Gene - GeneCards | A1AT Protein | A1AT Antibody
Nov 14, 2025 · Complete information for SERPINA1 gene (Protein Coding), Serpin Family A Member 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The …
Serpina1 gene: Functions, mutations, and clinical significance - Genetics
Dec 20, 2023 · The Serpina1 gene is responsible for producing alpha-1 antitrypsin, a protein that helps protect the lungs from damage caused by inflammation and infection.
SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1; SERPINA1
The SERPINA1 gene encodes alpha-1-antitrypsin (AAT), also known as protease inhibitor (PI), a major plasma serine protease inhibitor. AAT complexes predominantly with elastase, but also with trypsin, …
Causes of Alpha-1 Antitrypsin Deficiency | Alpha-1 Foundation
The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin (AAT), which protects the body from damage by its immune cells. If you have Alpha-1, you inherited two copies of …
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an ...
The SERPINA1 Gene and Its Variants AAT is encoded by SERPINA1 (SERPIN family A member 1) gene, which is located at chromosomal region 14q32.13, and spans for about 13.9 kb …
Gene test interpretation: SERPINA1 (alpha-1 antitrypsin gene
Mar 25, 2024 · INTRODUCTION This monograph discusses the interpretation and possible interventions following genetic testing of the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT). It is not …