The human crystallin gene families
<p>Abstract</p> <p>Crystallins are the abundant, long-lived proteins of the eye lens. The major human crystallins belong to two different superfamilies: the small heat-shock proteins (α-crystallins) and the βγ-crystallins. During evolution, other proteins have sometimes been recrui...
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| Format: | Article |
| Language: | English |
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BMC
2012-12-01
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| Series: | Human Genomics |
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| Online Access: | http://www.humgenomics.com/content/6/1/26 |
| Summary: | <p>Abstract</p> <p>Crystallins are the abundant, long-lived proteins of the eye lens. The major human crystallins belong to two different superfamilies: the small heat-shock proteins (α-crystallins) and the βγ-crystallins. During evolution, other proteins have sometimes been recruited as crystallins to modify the properties of the lens. In the developing human lens, the enzyme betaine-homocysteine methyltransferase serves such a role. Evolutionary modification has also resulted in loss of expression of some human crystallin genes or of specific splice forms. Crystallin organization is essential for lens transparency and mutations; even minor changes to surface residues can cause cataract and loss of vision.</p> |
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| ISSN: | 1479-7364 |