NHS (Nance-Horan Syndrome (Congenital cataracts and dental anomalies), DKFZp781F2016, DKFZp781L0254, SCML1) (FITC)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq Applications: Suitable for use in Immunofluorescence, Western Blot. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. AA Sequence: TAESPQSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSS Storage...