TPSD1
Description
The TPSD1 (tryptase delta 1) is a protein-coding gene located on chromosome 16.
Tryptase delta is an enzyme encoded by the TPSD1 gene in humans. It belongs to the trypsin-like serine protease family (peptidase family S1). Tryptases are only active as heparin-stabilized tetramers and resist all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3, distinguished by their highly conserved 3' UTR and tandem repeat sequences at the 5' flank and 3' UTR, potentially regulating mRNA stability. Most tryptase genes have an intron upstream of the initiator Met codon, separating the transcription initiation site from the protein coding sequence, a feature uncommon in other genes. Tryptases are implicated in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene, once considered a pseudogene, is now recognized as functional, encoding a protein.
Tryptase delta, encoded by the TPSD1 gene, is a major neutral protease found in mast cells. It is released upon the activation and degranulation of these cells.
TPSD1 is also known as MCP7-LIKE, MCP7L1, MMCP-7L.
Associated Diseases
- systemic mastocytosis
- bladder exstrophy
- eosinophil peroxidase deficiency
- linear and whorled nevoid hypermelanosis
- neutropenia, severe congenital, 1, autosomal dominant
- anaphylaxis
- colorectal cancer
- COVID-19
- Ehlers-Danlos syndrome
