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GlossarySPINK5

gene encoding a protein that inhibits specific protein-degrading enzymes

SPINK5 stands for Serine Peptidase Inhibitor, Kazal Type 5. It is a gene that encodes a protein involved in inhibiting certain enzymes that break down proteins. Mutations in the SPINK5 gene can lead to Netherton syndrome, a condition characterized by skin abnormalities, hair defects, and a predisposition to allergies.

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research Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity

372 citations , December 2004 in “Nature Genetics”

research Epidermal Differentiation: The Role of Proteases and Their Inhibitors

118 citations , January 2004 in “European Journal of Cell Biology”

Balanced protease activity is crucial for healthy skin and hair development.

Office Diagnosis of Hair Shaft Defects

research Office Diagnosis of Hair Shaft Defects

33 citations , March 2006 in “Seminars in cutaneous medicine and surgery”

The document explains how to identify different hair problems using a microscope.

research Netherton Syndrome Associated With Growth Hormone Deficiency

21 citations , September 2013 in “Pediatric Dermatology”

Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.

research Lethal Form of Netherton Syndrome in a Consanguineous Multiplex Family

5 citations , January 2011 in “Archives de Pédiatrie”

A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.

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