|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The serine peptidases gene family provides instructions for making a group of enzymes known as peptidases. A peptidase is an enzyme that breaks down protein fragments, known as peptides, into their individual building blocks (amino acids). The peptide to be broken down is attached (bound) to the serine peptidase at a region of the enzyme known as the active site or substrate-binding site. Within this site in the enzyme structure is the amino acid serine, which is why these enzymes are classified as serine peptidases.
There are more than 150 serine peptidases in humans. Most of these enzymes are released from cells in a nonfunctional (inactive) state. The enzyme needs to be cut (cleaved) twice in order to be turned on (activated): once to cut off a region of the enzyme that guides its release from the cell and again to activate the enzyme.
Serine peptidases play a role in many of the body's functions, such as digestion, forming and breaking down blood clots, immune responses, wound healing, hormonal regulation, and reproduction. Mutations in serine peptidase genes are responsible for a wide range of disorders. Mutations in the serine peptidase gene PRSS1 cause a condition called hereditary pancreatitis, which is characterized by chronic inflammation of the pancreas and impairment of normal digestion. Mutations in the HTRA1 gene cause a condition called CARASIL, which affects intellectual function, hair growth, and the nervous system.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the PRSS gene family: HTRA1, MASP1, PRSS1, and TMPRSS6.
Genetics Home Reference includes these conditions related to genes in the PRSS gene family:
You may find the following resources about the PRSS gene family helpful.
acids ; active site ; amino acid ; catalytic ; cell ; chronic ; digestion ; enzyme ; gene ; hereditary ; inflammation ; nervous system ; pancreas ; pancreatitis ; peptide ; protease ; protein ; reproduction ; serine ; transmembrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the PRSS gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.