Gene Symbol | ESPN |
Entrez Gene ID | 83715 |
Full Name | espin |
Synonyms | DFNB36,LP2654 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Nov 2009]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 36, 609006 (3); Deafness, neurosensory, without vestibular involvement, autosomal dominant (3) |