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A novel missense mutation in the Lim2 (zeige LHX2 Proteine) gene affects lens development in a semidominant manner. Since homozygous mutants develop congenital lens opacities, this mouse line can be used as a model for inherited cataract formation in humans.
Data show that the calcium- and integrin-binding protein CIB (zeige CIB1 Proteine) as an LMO3 (zeige LMO3 Proteine)-binding protein, which binds via the second LIM (zeige PDLIM5 Proteine) domain (LIM2 (zeige LHX2 Proteine)) of LMO3 (zeige LMO3 Proteine).
A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts.
The genetic mutation in GJA3 (zeige GJA3 Proteine), GJA8 (zeige GJA8 Proteine), and LIM2 may slightly contribute to the development of age-related cataracts.
Since the LIM2 gene promoter does not contain a classic TATA box, the Hsu element may serve as the site for binding the RNA polymerase complex.
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family
This study shows the involvement of LIM2 in human congenital cataract.
This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, lens fiber membrane intrinsic protein
, total opacity 3
, lens intrinsic membrane protein 2, 19kDa
, intrinsic membrane protein 2