Structural highlights
Disease
CRYAA_HUMAN Early-onset lamellar cataract;Early-onset nuclear cataract;Total early-onset cataract;Cataract-microcornea syndrome;Early-onset anterior polar cataract. Alpha-crystallin A 1-172 is found at nearly twofold higher levels in diabetic lenses than in age-matched control lenses.[1] The disease is caused by mutations affecting the gene represented in this entry.
Function
CRYAA_HUMAN Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.[2]
References
- ↑ Thampi P, Hassan A, Smith JB, Abraham EC. Enhanced C-terminal truncation of alphaA- and alphaB-crystallins in diabetic lenses. Invest Ophthalmol Vis Sci. 2002 Oct;43(10):3265-72. PMID:12356833
- ↑ Nagaraj RH, Nahomi RB, Shanthakumar S, Linetsky M, Padmanabha S, Pasupuleti N, Wang B, Santhoshkumar P, Panda AK, Biswas A. Acetylation of alphaA-crystallin in the human lens: effects on structure and chaperone function. Biochim Biophys Acta. 2012 Feb;1822(2):120-9. doi: 10.1016/j.bbadis.2011.11.011. , Epub 2011 Nov 18. PMID:22120592 doi:http://dx.doi.org/10.1016/j.bbadis.2011.11.011
