Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q
- 1 May 2000
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 25 (1), 15-17
- https://doi.org/10.1038/75538
Abstract
Human inherited cataract is both clinically diverse and genetically heterogeneous. Here we report the identification of the first mutations affecting the major intrinsic protein of the lens, MIP, encoded by the gene MIP on 12q14. MIP is a member of the aquaporin family of membrane-bound water channels. The mutations identified are predicted to disturb water flux across the lens cell membrane.This publication has 13 references indexed in Scilit:
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