ESRRB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ESRRB wild-type allele is located in the vicinity of 14q24.3 and is approximately 191 kb in length. This allele, which encodes steroid hormone receptor ERR2 protein, is involved in rod cell survival and inner ear development. Mutation of the gene is associated with autosomal recessive deafness type 35.

**Synonyms:** - DFNB35 - Deafness, Autosomal Recessive 35 Gene - ERR2 - ERRb - ERRbeta - ESRL2 - Estrogen Related Receptor Beta wt Allele - Estrogen-Related Receptor, Beta Gene - NR3B2