XB-FEAT-5892148

tpsab1

This is the community wiki page for the gene tpsab1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

DISEASE ASSOCIATIONS OF TPSAB1

Disease: Hereditary Alpha Tryptasemia, a disease caused by duplications of the TPSAB1 gene in humans.

Reference: Lyons, JJ Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features. Immunology and Allergy Clinics of North America, 08 Jun 2018, 38(3):483-495

DOI: 10.1016/j.iac.2018.04.003 PMID: 30007465 PMCID: PMC6411063

SUMMARY FOR HUMAN TPSAB1 FROM NCBI

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]