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Article

Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.

Acta medica Okayama - 1 Jun 2018

Morizane Shin, Ouchida Mamoru, Sunagawa Ko, Sugimoto Saeko, Kobashi Mina, Sugihara Satoru, Nomura Hayato, Tsuji Kazuhide, Sato Atsushi, Miura Yoshihiro, Hattori Hiroaki, Tada Kotaro, Huh Wook-Kang, Seno Akemi, Iwatsuki Keiji

Abstract excerpt

Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is a large multidomain serine protease inhibitor that is expressed in epidermal keratinocytes. Nonsense mutations of the SPINK5 gene, which codes for LEKTI, cause Netherton syndrome, which is characterized by hair abnormality, ichthyosis, and atopy. A single nucleotide polymorphism (SNP) of SPINK5, p.K420E, is reported to be associated with the pathogenesis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29926005
DOI: 10.18926/AMO/56073

Genes

SPINK5

Variants

Provenance

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Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.PMID 29926005Read ↗

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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.Semantic proximity Read ↗

The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitisSemantic proximity Read ↗

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.Semantic proximity Read ↗

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