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{{STRUCTURE_2kfb| PDB=2kfb | SCENE= }} | {{STRUCTURE_2kfb| PDB=2kfb | SCENE= }} | ||
===The structure of the cataract causing P23T mutant of human gamma-D crystallin=== | ===The structure of the cataract causing P23T mutant of human gamma-D crystallin=== | ||
{{ABSTRACT_PUBMED_19216553}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Defects in CRYGD are a cause of cataract autosomal dominant (ADC) [MIM:[http://omim.org/entry/604219 604219]]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood.<ref>PMID:9927684</ref><ref>PMID:10688888</ref><ref>PMID:21031598</ref> Defects in CRYGD are the cause of cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:[http://omim.org/entry/601286 601286]]; also known as polymorphic congenital cataract. A congenital cataract characterized by a non-progressive phenotype and partial opacity that has a variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers.<ref>PMID:16943771</ref><ref>PMID:17564961</ref> Defects in CRYGD are the cause of cataract congenital cerulean type 3 (CCA3) [MIM:[http://omim.org/entry/608983 608983]]; also known as congenital cataract blue dot type 3. A cerulean form of autosomal dominant congenital cataract. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Defects in CRYGD are the cause of cataract crystalline aculeiform (CACA) [MIM:[http://omim.org/entry/115700 115700]]. A congenital crystalline cataract characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. The opacity causes a variable degree of vision loss.<ref>PMID:10521291</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CRGD_HUMAN CRGD_HUMAN]] Crystallins are the dominant structural components of the vertebrate eye lens. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019216553</ref><references group="xtra"/> | <ref group="xtra">PMID:019216553</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Byeon, I L.]] | [[Category: Byeon, I L.]] | ||
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[[Category: Eye lens protein]] | [[Category: Eye lens protein]] | ||
[[Category: Lens]] | [[Category: Lens]] | ||
[[Category: Oxidation]] | [[Category: Oxidation]] | ||
[[Category: Protein]] | [[Category: Protein]] | ||
[[Category: Sensory transduction]] | [[Category: Sensory transduction]] | ||
[[Category: Structural protein]] | [[Category: Structural protein]] | ||
[[Category: Vision]] | [[Category: Vision]] | ||