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SPINK5

SPINK5

Reviewed March 2014

What is the official name of the SPINK5 gene?

The official name of this gene is “serine peptidase inhibitor, Kazal type 5.”

SPINK5 is the gene's official symbol. The SPINK5 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SPINK5 gene?

The SPINK5 gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the skin and in the thymus, which is a gland located behind the breastbone that plays an important role in the immune system by producing white blood cells called lymphocytes. LEKT1 controls the activity of certain serine peptidases in the outer layer of skin (the epidermis), especially the tough outer surface known as the stratum corneum, which provides a sturdy barrier between the body and its environment. Serine peptidase enzymes are involved in normal skin shedding by helping to break the connections between cells of the stratum corneum. LEKT1 is also involved in normal hair growth, the development of lymphocytes in the thymus, and the control of peptidases that trigger immune system function.

Does the SPINK5 gene share characteristics with other genes?

The SPINK5 gene belongs to a family of genes called SPINK (serine peptidase inhibitors, Kazal type).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SPINK5 gene related to health conditions?

Netherton syndrome - caused by mutations in the SPINK5 gene

At least 70 SPINK5 gene mutations have been identified in people with Netherton syndrome, a disorder involving skin and hair abnormalities and a high risk of allergies, asthma, and an inflammatory skin condition called eczema. Mutations in the SPINK5 gene result in a LEKT1 protein that is unable to control serine peptidase activity. The lack of LEKT1 function allows the serine peptidases to be abnormally active and break down too many proteins in the stratum corneum. As a result, excessive skin shedding takes place, and the stratum corneum is unusually thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal hair growth. The immune dysfunction that leads to allergies, asthma, and eczema in people with Netherton syndrome likely arises from a lack of LEKT1 control of peptidases involved in the triggering of immune system function. Excessive activation of the immune system caused by invasion of microbes in the abnormal skin is also thought to be involved.

other disorders - increased risk from variations of the SPINK5 gene

Normal variations (polymorphisms) in the SPINK5 gene have been associated with an increased risk of abnormal triggering (hypersensitivity) of the immune system, known as atopy. Atopy leads to disorders such as allergies, eczema, and asthma. SPINK5 gene variations may affect the ability of LEKT1 to control peptidases involved in triggering the immune system, leading to an increased risk of these disorders.

Where is the SPINK5 gene located?

Cytogenetic Location: 5q32

Molecular Location on chromosome 5: base pairs 148,063,971 to 148,137,361

The SPINK5 gene is located on the long (q) arm of chromosome 5 at position 32.

The SPINK5 gene is located on the long (q) arm of chromosome 5 at position 32.

More precisely, the SPINK5 gene is located from base pair 148,063,971 to base pair 148,137,361 on chromosome 5.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SPINK5?

You and your healthcare professional may find the following resources about SPINK5 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SPINK5 gene or gene products?

  • DKFZp686K19184
  • FLJ21544
  • FLJ97536
  • FLJ97596
  • FLJ99794
  • ISK5_HUMAN
  • LEKTI
  • LETKI
  • lymphoepithelial Kazal-type-related inhibitor
  • lympho-epithelial Kazal-type-related inhibitor
  • NETS
  • NS
  • serine protease inhibitor Kazal-type 5
  • serine protease inhibitor, Kazal type 5
  • VAKTI

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SPINK5?

eczema ; epidermis ; epithelial ; gene ; immune system ; protease ; protein ; serine ; syndrome ; thymus ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)

 

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? in the Handbook.

 
Reviewed: March 2014
Published: October 20, 2014