Opticin is encoded by the OPTC gene, which is located on chromosome 1q31–q32. This region is also associated with susceptibility to age-related macular degeneration (AMD), a leading cause of vision loss in older adults . The OPTC gene produces a protein that is approximately 62 kDa in size and is characterized by leucine-rich repeats, which are typical of the SLRP family .
Opticin is uniquely expressed in various tissues of the eye, including the cornea, iris, ciliary body, vitreous, choroid, and retina . Its expression is not limited to the eye, as it has also been detected in other tissues, albeit at lower levels. The protein’s localization within the eye suggests that it plays a significant role in ocular health and function.
Research has shown that opticin is involved in the pathobiology of certain diseases. For instance, it has been observed that opticin is uniquely expressed and translocated to the nucleus of chronic lymphocytic leukemia (CLL) cells . This unique expression pattern in CLL cells, but not in healthy control donors, suggests that opticin may have a role in the development or progression of this type of leukemia. Additionally, mutations in the OPTC gene have been investigated in relation to primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG), and AMD .
The unique expression and localization of opticin in various tissues, particularly in the eye, make it a potential target for therapeutic interventions. Understanding the molecular mechanisms underlying opticin’s function and its role in disease could lead to the development of new treatments for ocular diseases and certain types of leukemia.
In conclusion, opticin (human recombinant) is a significant protein within the SLRP family, with crucial roles in maintaining the structural integrity of the eye and potential implications in disease pathobiology. Further research is needed to fully elucidate its functions and therapeutic potential.