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Nat Genet. 2000 May;25(1):15-7.

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

Author information

1
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.

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.

PMID:
10802646
DOI:
10.1038/75538
[Indexed for MEDLINE]

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