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    Glossary SPINK5

    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 10 of 160

    1. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity Nature Genetics · 2004 · 372 citations
    2. Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata Figshare · 2026
    3. Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata Figshare · 2026
    4. Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata Case Reports in Dermatology · 2026
    5. Epidermal differentiation: The role of proteases and their inhibitors European Journal of Cell Biology · 2004 · 118 citations
    6. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    7. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    8. Netherton Syndrome Associated with Growth Hormone Deficiency Pediatric Dermatology · 2013 · 21 citations
    9. Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome Dermatology · 2014 · 11 citations
    10. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
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