The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.2 - 1 µg/ml. Predicted molecular weight: 57 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis.
Localized specifically in the outer and inner segments of the photoreceptor cells in the retina.
Involvement in disease
Defects in FSCN2 are the cause of retinitis pigmentosa type 30 (RP30) [MIM:607921]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP30 inheritance is autosomal dominant.