Entrez gene ID | | 83715 |
Official gene symbol | | ESPN |
Full name | | espin |
Aliases | | ,DFNB36,DKFZp434A196,DKFZp434G2126, |
Gene summary | | This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p36.31-p36.11 |
Gene position | | 6484848 - 6521004 Map Viewer |
Gene orientation | | plus |
Gene size | | 36157 bp |
Gene sequence |
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OMIM ID | | 606351 |
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