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Netherton syndrome
Summary
- Definition
- A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
- Super Class
- autosomal recessive disease skin disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05362 | Intercellular adhesion molecule 1 | |
| P12821 | Angiotensin-converting enzyme | |
| P35354 | Prostaglandin G/H synthase 2 |
