Disease-gene associations mined from literature

Literature associating TPSAB1 and hereditary mixed polyposis syndrome 2

TPSAB1 [ENSP00000343577]

Tryptase alpha/beta 1; Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates; Belongs to the peptidase S1 family. Tryptase subfamily.

Synonyms:  TPSAB1,  TPSAB1p,  hTPSAB1,  J3QTS8,  P20231 ...

Linkouts:  STRING  Pharos  UniProt  OMIM