SERPINA13P
Description
The SERPINA13P (serpin family A member 13, pseudogene) is a pseudo gene located on chromosome 14.
SERPINA13P is a variant of the alpha-1-antitrypsin (AAT) gene. It encodes a protein that is a member of the serpin superfamily. This protein is a serine protease inhibitor that inhibits the activity of various serine proteases, including neutrophil elastase. This gene contains a mutation that results in a reduced inhibitory capacity of the encoded protein. Individuals with this gene may be more susceptible to diseases like emphysema.
SERPINA13P, also known as alpha-1-antitrypsin (AAT) Pittsburgh, is a variant of the AAT gene. It is a serpin (serine protease inhibitor) that inhibits the activity of various serine proteases, including neutrophil elastase. However, due to a specific mutation in the gene, SERPINA13P exhibits a reduced inhibitory capacity compared to the wild-type AAT. This impaired function can contribute to the development of diseases like emphysema, especially when coupled with environmental factors like cigarette smoke.
SERPINA13P is also known as SERPINA13, UNQ6121.
Associated Diseases
- pyometritis
- hemophilia A
- alpha 1-antitrypsin deficiency
- squamous cell intraepithelial neoplasia
- Netherton syndrome
- hyperinsulinemic hypoglycemia, familial, 4
- Duane retraction syndrome
