This project focuses on a family of proteins, the Steaps, that we have recently implicated in cellular iron uptake. In particular, the proteins function as metalloreductases in vitro. One family member, Steap3, is required for efficient iron uptake by the transferrin cycle. We have recently created targeted mouse mutations in 3 of the 4 Steap family members and are systematically characterizing their in vivo phenotypes alone and in combination . In addition, one of the Steap3 alleles (nm1054) that we maintain, is a large genomic deletion that includes a novel gene involved in ciliary biogenesis. These animals develop hydrocephalus as part of an immotile cilia syndrome. We are concurrently characterizing the function of this novel gene.
