Talpid 3 (Talpid3)

By sequencing clones obtained from a size-fractionated human brain cDNA library, Nagase et al. (1998) cloned KIAA0586. The deduced protein contains 1,533 amino acids. RT-PCR detected moderate expression in kidney only.Davey et al. (2006) identified KIAA0586 orthologs in vertebrates only. In chicken, the protein localized to the cytoplasm.By radiation hybrid analysis, Nagase et al. (1998) mapped the KIAA0586 gene to chromosome 14.Talpid-3 is a chicken mutant with abnormal limb patterning and malformations in other regions of the embryo that depend on hedgehog (SHH) signaling. Davey et al. (2006) determined that talpid-3 is due to a frameshift mutation in the chicken ortholog of KIAA0586, leading to a truncated protein.