Missense mutations in MIP underlie autosomal dominant 'polymorphic'and lamellar cataracts linked to 12q

V Berry, P Francis, S Kaushal, A Moore… - Nature …, 2000 - nature.com
V Berry, P Francis, S Kaushal, A Moore, S Bhattacharya
Nature genetics, 2000nature.com
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.
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.
nature.com