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Genetics Home Reference: your guide to understanding genetic conditions
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SPINK gene family

Reviewed March 2014

What are the SPINK genes?

Genes in the SPINK gene family provide instructions for making proteins called serine peptidase inhibitors (also called serine protease inhibitors). Most serine peptidase inhibitors help control certain chemical reactions by blocking (inhibiting) the function of enzymes called serine peptidases.

Each serine peptidase inhibitor blocks the activity of one or more serine peptidase enzymes. The serine peptidase inhibitors attach (bind) to their target enzymes to prevent them from completing any further reactions, and this binding irreversibly changes the shape of the inhibitor protein. Certain cells recognize when a serine peptidase inhibitor is bound to its target and clear these attached pairs from the bloodstream.

The serine peptidase inhibitors produced from genes in the SPINK family each have a region called the Kazal type serine peptidase inhibitor domain. These proteins are primarily active (expressed) in epithelial and mucosal tissues, which line the surfaces and cavities of the body. For example, SPINK1 is expressed in the gastrointestinal tract, SPINK2 is expressed in the male reproductive system, and SPINK5 is primarily expressed in the outer layer of the skin. The proteins are involved in inhibiting the breakdown of these tissues, and mutations in these genes may impair normal tissue maintenance, leading to a variety of disorders.

Which genes are included in the SPINK gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the SPINK family (http://www.genenames.org/genefamilies/SPINK).

Genetics Home Reference summarizes the normal function and health implications of this member of the SPINK gene family: SPINK5.

What conditions are related to genes in the SPINK gene family?

Genetics Home Reference includes these conditions related to genes in the SPINK gene family:

  • Netherton syndrome

Where can I find additional information about the SPINK gene family?

You may find the following resources about the SPINK gene family helpful.

  • Biochemistry (fifth edition, 2002): Some Proteolytic Enzymes Have Specific Inhibitors (http://www.ncbi.nlm.nih.gov/books/NBK22589/)

What glossary definitions help with understanding the SPINK gene family?

breakdown ; domain ; epithelial ; expressed ; gastrointestinal ; gene ; protease ; protein ; serine ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the SPINK gene family.

  • Schlott B, Wöhnert J, Icke C, Hartmann M, Ramachandran R, Gührs KH, Glusa E, Flemming J, Görlach M, Grosse F, Ohlenschläger O. Interaction of Kazal-type inhibitor domains with serine proteinases: biochemical and structural studies. J Mol Biol. 2002 Apr 26;318(2):533-46. (http://www.ncbi.nlm.nih.gov/pubmed/12051857?dopt=Abstract)
  • Rawlings ND, Tolle DP, Barrett AJ. Evolutionary families of peptidase inhibitors. Biochem J. 2004 Mar 15;378(Pt 3):705-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14705960?dopt=Abstract)
  • Wapenaar MC, Monsuur AJ, Poell J, van 't Slot R, Meijer JW, Meijer GA, Mulder CJ, Mearin ML, Wijmenga C. The SPINK gene family and celiac disease susceptibility. Immunogenetics. 2007 May;59(5):349-57. Epub 2007 Feb 27. (http://www.ncbi.nlm.nih.gov/pubmed/17333166?dopt=Abstract)

 

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.

 
Reviewed: March 2014
Published: December 16, 2014