Meyahealth
HomeGeneticsGeneSPINK5 gene
Back to Gene
SPINK5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SPINK5 gene

The SPINK5 gene encodes the LEKT1 protein, which regulates skin shedding and immune system function by controlling the activity of specific enzymes.

Normal Function

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, a gland 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.

Health Conditions Related to Genetic Changes

Netherton syndrome

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. Loss of LEKT1 function also results in abnormal hair growth and immune dysfunction, likely arising from a lack of LEKT1 control of peptidases involved in triggering the immune system.

Other disorders

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.

Frequently Asked Questions

Netherton syndrome often presents at birth or in early infancy with severe skin redness (erythroderma) and scaling, resembling a "collodion baby" appearance or generalized ichthyosis. Other key signs include characteristic hair shaft abnormalities, often described as "bamboo hair" (trichorrhexis invaginata), which causes brittle, sparse hair. Infants may also experience failure to thrive due to excessive fluid and protein loss through the skin, and are at high risk for infections and dehydration.
Individuals with Netherton syndrome have a significantly increased risk of developing severe allergies, including food allergies, asthma, and atopic eczema. They may also experience recurrent infections due to immune system dysfunction, particularly affecting the skin and respiratory tract. Growth delays and nutritional deficiencies are also common due to the chronic skin inflammation and protein loss.
Netherton syndrome is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the mutated SPINK5 gene, one from each parent, to develop the condition. Parents who are carriers (having one mutated copy) typically do not show symptoms. For each child of two carriers, there is a 25% chance of inheriting the condition, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier. Genetic counseling is highly recommended for affected individuals and their families to understand inheritance patterns and reproductive options.
Daily skin care for Netherton syndrome focuses on maintaining skin hydration, reducing inflammation, and preventing infection. This typically involves frequent application of emollients and moisturizers, often multiple times a day, to help restore the skin barrier. Gentle bathing with mild cleansers, avoiding harsh soaps or scrubs, is also recommended. Topical corticosteroids or calcineurin inhibitors may be used under medical supervision to manage severe inflammation, and vigilant monitoring for skin infections is crucial.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ