
Alpha-1 Antitrypsin Deficiency: Causes, Symptoms & Treatment
Alpha-1 antitrypsin deficiency affects people who have two copies of the SERPINA1 gene that makes an abnormal type of the Alpha-1 protein. Genes are the instructions for how your body …
SERPINA1 Gene - GeneCards | A1AT Protein | A1AT Antibody
2025年3月30日 · SERPINA1 (Serpin Family A Member 1) is a Protein Coding gene. Diseases associated with SERPINA1 include Alpha-1-Antitrypsin Deficiency and Hemorrhagic Disease …
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 …
SERPINA1 gene - MedlinePlus
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 …
Alpha 1-antitrypsin deficiency | About the Disease | GARD
Alpha-1 antitrypsin deficiency (AATD) is an inherited disease that causes an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems …
Variants of SERPINA1 and the increasing complexity of testing for …
Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene, which encodes the alpha-1 antitrypsin (AAT) protein. Currently, over 200 SERPINA1 variants have …
SERPINA1 serpin family A member 1 [ Homo sapiens (human) ]
2025年3月8日 · The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, …
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SERPINA1 - Nature
2016年7月28日 · α1‑Antitrypsin (encoded by SERPINA1) is a serine proteinase inhibitor, produced principally by hepato‑ cytes but also by neutrophils, monocytes and epithelial cells of …
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 …
Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1 ...
High expression of SERPINA1 gene encoding acute phase protein, alpha1-antitrypsin (AAT), is associated with various tumors. We sought to examine the significance of SERPINA1 and AAT …