ESPN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ESPN wild-type allele is located in the vicinity of 1p36.31 and is approximately 37 kb in length. This allele, which encodes espin protein, plays a role in microvillus formation, function and maintenance in mechanosensory and chemosensory cells. Mutation of the gene is associated with type 1M Usher syndrome, autosomal recessive neurosensory deafness type 36 and autosomal dominant sensorineural deafness without vestibular involvement.

**Synonyms:** - DFNB36 - Deafness, Autosomal Recessive 36 Gene - Espin wt Allele - Espin, Mouse, Homolog of Gene - LP2654 - USH1M