Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
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.
Berry
V
V
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
Francis
P
P
Kaushal
S
S
Moore
A
A
Bhattacharya
S
S
D000328:Adult; D000595:Amino Acid Sequence; D020346:Aquaporins; D002386:Cataract / Q000145:classification / Q000235:genetics*; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
D020346:Aquaporins; D005136:Eye Proteins; D008562:Membrane Glycoproteins; C030328:aquaporin 0