Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544).
Cataract 33, multiple types
CTRCT33
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. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.
None
The disease is caused by variants affecting the gene represented in this entry.
Proteolytically cleaved during lens cell fiber differentiation with increased fragmentation as fiber cell age increases.
Filensin C-terminal fragment
Myristoylated at Gly-434 following proteolytic cleavage at Asp-433.
Filensin N-terminal fragment
Acetylated at Ala-42 following proteolytic cleavage at Leu-41.
Belongs to the intermediate filament family.
Expressed in the cortex and nucleus of the retina lens (at protein level).
Proteins
Neuroscience
74544Da
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