1uuc: Difference between revisions
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{{STRUCTURE_1uuc| PDB=1uuc | SCENE= }} | {{STRUCTURE_1uuc| PDB=1uuc | SCENE= }} | ||
===SOLUTION STRUCTURE OF A CHIMERIC LEKTI-DOMAIN=== | |||
{{ABSTRACT_PUBMED_15366933}} | |||
== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ISK5_HUMAN ISK5_HUMAN]] Defects in SPINK5 are the cause of Netherton syndrome (NETH) [MIM:[http://omim.org/entry/256500 256500]]. NETH is an autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.<ref>PMID:10835624</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ISK5_HUMAN ISK5_HUMAN]] Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.<ref>PMID:10419450</ref><ref>PMID:17596512</ref><ref>PMID:20533828</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015366933</ref><references group="xtra"/> | <ref group="xtra">PMID:015366933</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Lauber, T.]] | [[Category: Lauber, T.]] | ||
