LIM2
Function
Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis.
Involvement in disease
Cataract, multiple types 19
CTRCT19
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PMP-22/EMP/MP20 family.
Tissue Specificity
Eye lens specific.
Cellular localization
- Membrane
- Multi-pass membrane protein
Alternative names
Lens fiber membrane intrinsic protein, MP18, MP19, MP20, LIM2