More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, 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.
Immunogen Information
Immunogen
Recombinant fusion protein of human BFSP2 (NP_003562.1).
Gene ID
8419
Swissprot
Q13515
Synonyms
BFSP2CP47CP49CTRCT12LIFL-LPHAKOSINphakinin
Calculated MW
45 kDa
Observed MW
46 kDa
Applications
Reactivity
Mouse
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1 mg/mL
Storage Buffer
PBS with 0.02% sodium azide, 50% glycerol, pH7.3
Storage Instructions
Store at -20°C. Avoid freeze / thaw cycles.
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