Disease related genes, Human disease related genes
Intracellular
Cell type enhanced (NK-cells, Spermatogonia, Late spermatids)
Immune cell enhanced (gdT-cell)
Cell line enhanced (hTERT-RPE1, RPTEC TERT1, SK-BR-3)
Part of a complex required for lens intermediate filament formation composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Identified in a complex that contains VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity). Found in a complex composed of PPL (via C-terminal linker domain), BFSP1 and BFSP2 in the retinal lens (By similarity). Within the complex interacts with BFSP2 (By similarity). Interacts (via C-terminus) with MIP (via C-terminus) in aged lens fiber cells (By similarity).
Eye lens protein
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For Research Use Only. Not For Clinical Use.