%0 Journal Article
%T The human crystallin gene families
%A Wistow Graeme
%J Human Genomics
%D 2012
%I BioMed Central
%R 10.1186/1479-7364-6-26
%X 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 (¦Á-crystallins) and the ¦Â¦Ã-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.
%K Crystallins
%K Lens
%K Cataract
%K Evolution
%K Pseudogene
%K Heat-shock
%K Enzymes
%U http://www.humgenomics.com/content/6/1/26