PRSS27

Chr 16

serine protease 27

Also known as: CAPH2, MPN

NCBI Gene: 83886 ENSG00000172382 UniProt: Q9BQR3

The encoded protein is a secreted tryptic serine protease expressed mainly in the pancreas. Mutations in this gene cause autosomal recessive enterokinase deficiency, a rare disorder presenting in infancy with failure to thrive, diarrhea, and malabsorption due to impaired pancreatic enzyme activation. The gene is highly tolerant to loss-of-function variants in the general population (pLI = 0.00008), consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq

This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.18

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)