Gene: TMPRSS15

Alternate names for this Gene: ENTK|PRSS7

Gene Summary: This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.1

Description of this Gene: transmembrane serine protease 15

Type of Gene: protein-coding

rs138221037 in TMPRSS15 gene and Enterokinase Deficiency PMID 11719902 2002 Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

rs2406176 in TMPRSS15 gene and Meningococcal Infections PMID 20694013 2010 Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.