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.
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.
Belongs to the PMP-22/EMP/MP20 family.
Eye lens specific.
Lens fiber membrane intrinsic protein, MP18, MP19, MP20, LIM2
Proteins
Immunology & Infectious Disease
19674Da
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