More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.
Hess JF, Casselman JT, FitzGerald PG (1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.". Curr. Eye Res.14 (1): 11–8. doi:10.3109/02713689508999909. PMID7720401.
Hess JF, Casselman JT, FitzGerald PG (1996). "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein.". J. Biol. Chem.271 (12): 6729–35. doi:10.1074/jbc.271.41.25089. PMID8636093.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res.6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID8889548.
Hess JF, Casselman JT, Kong AP, FitzGerald PG (1998). "Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein.". Exp. Eye Res.66 (5): 625–44. doi:10.1006/exer.1998.0478. PMID9628810.
Carter JM, McLean WH, West S, Quinlan RA (2000). "Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.". Biochem. Biophys. Res. Commun.270 (2): 432–6. doi:10.1006/bbrc.2000.2442. PMID10753642.