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

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

  • Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538.
V Berry 1,  P Francis,  S Kaushal,  A Moore,  S Bhattacharya
Affiliations

Affiliation

  • 1 Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
PMID: 10802646 DOI: 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.

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