TPSAB1
Description
The TPSAB1 (tryptase alpha/beta 1) is a protein-coding gene located on chromosome 16.
Tryptase alpha-1 and tryptase beta-1 are enzymes encoded by the same TPSAB1 gene in humans. Beta tryptases are predominantly expressed in mast cells, while alpha tryptases are primarily found in basophils. Tryptases are a family of trypsin-like serine proteases (peptidase family S1) that are only enzymatically active as heparin-stabilized tetramers and are resistant to known endogenous proteinase inhibitors. Multiple tryptase genes are clustered on chromosome 16p13.3, characterized by a conserved 3' UTR and tandem repeat sequences at the 5' flank and 3' UTR, likely involved in regulating mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, separating the transcription initiation site from the protein coding sequence. This feature is unique to tryptases and unusual in other genes. The alleles of this gene exhibit significant sequence variation, leading to the initial belief that they represented two separate genes, alpha and beta 1. Tryptases have been linked to the pathogenesis of asthma and other allergic and inflammatory conditions.
Tryptase, the major neutral protease in mast cells, is secreted during activation and degranulation of these cells. This process may contribute to innate immunity. Isoform 2 cleaves larger substrates, such as fibronectin, more effectively than isoform 1 but appears less efficient for smaller substrates. (PubMed:18854315)
TPSAB1 is also known as TPS1, TPS2, TPSB1, TPSB2, Tryptase-2.
Associated Diseases
- systemic mastocytosis
- immunodeficiency 28
- varicella, severe recurrent
- recurrent Neisseria infections due to factor D deficiency
- candidiasis, familial, 4
- eosinophil peroxidase deficiency
- type II complement component 8 deficiency
- mannose-binding lectin deficiency
