1xm9
From Proteopedia
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{{STRUCTURE_1xm9| PDB=1xm9 | SCENE= }} | {{STRUCTURE_1xm9| PDB=1xm9 | SCENE= }} | ||
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===Structure of the armadillo repeat domain of plakophilin 1=== | ===Structure of the armadillo repeat domain of plakophilin 1=== | ||
| + | {{ABSTRACT_PUBMED_15663951}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/PKP1_HUMAN PKP1_HUMAN]] Defects in PKP1 are the cause of ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:[http://omim.org/entry/604536 604536]]; also known as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/PKP1_HUMAN PKP1_HUMAN]] Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:015663951</ref><references group="xtra"/> | + | <ref group="xtra">PMID:015663951</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Choi, H J.]] | [[Category: Choi, H J.]] | ||
Revision as of 07:20, 25 March 2013
Contents |
Structure of the armadillo repeat domain of plakophilin 1
Template:ABSTRACT PUBMED 15663951
Disease
[PKP1_HUMAN] Defects in PKP1 are the cause of ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]; also known as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.
Function
[PKP1_HUMAN] Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.
About this Structure
1xm9 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Choi HJ, Weis WI. Structure of the armadillo repeat domain of plakophilin 1. J Mol Biol. 2005 Feb 11;346(1):367-76. Epub 2004 Dec 19. PMID:15663951 doi:10.1016/j.jmb.2004.11.048
