Gene ESRRB
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Also known as
DFNB35, ERRbeta, NR3B2, estrogen related receptor betaOverview
ESRRB (Estrogen Related Receptor Beta) encodes an orphan nuclear receptor that does not bind estrogen but regulates similar gene targets. Despite its name, ESRRB functions independently of estrogen and plays important roles in placental development, stem cell maintenance, and inner ear function.Mutations in ESRRB cause autosomal recessive deafness type 35 (DFNB35), a form of nonsyndromic hearing loss. The gene is expressed in the inner ear where it is essential for hair cell development and function. ESRRB is also one of the factors that can induce pluripotent stem cells, highlighting its role in maintaining the undifferentiated state of cells.
Understanding your ESRRB genetic status is relevant for evaluation of genetic hearing loss. Identification of ESRRB mutations enables genetic counseling for families affected by this form of deafness and may inform future therapeutic approaches including gene therapy for hearing restoration.