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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 Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

11 citations , January 2014 in “Dermatology”

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.

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.

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 Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

33 citations , June 2016 in “Pediatric Dermatology”

Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.

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