This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants.
2112.77RON
În stoc
Număr Catalog 665-STJ119516CategorieAfaceri și industrie > Știință și laboratorFurnizorSt John's LaboratoryGentaurDimensiune50 µlTipsingle