TPSG1 Chromosome 16

Tryptase gamma 1
1 variant 1 Health Risk

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What This Gene Does
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. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Serine proteases
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000116176
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS117001332 Health Risk Conflicting classifications of pathogenicity
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