Estrogen Related Receptor Beta (ERRb)

ERRb encodes a protein with sequence similarity to the estrogen receptor, a member of nuclear hormone receptor family of steroid hormone receptors. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development.Sequence analysis of the ESRRB gene in the affected individuals of the original DFNB35 family and in 3 other DFNB35-linked consanguineous families from Pakistan revealed 4 missense mutations. One of the substitutions (A110V) was located in the DNA-binding domain of ESRRB, whereas the other 3 were substitutions in the ligand-binding domain. Molecular modeling of this receptor showed that the missense mutations were likely to affect the structure and stability of these domains. This was thought to be the first report of pathogenic mutations of an estrogen-related receptor gene.