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Rabbit Anti-Espin/DFNB36 antibody
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]
Function:
Espin is 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.
Subunit:
Monomer (By similarity). Binds F-actin in a Ca(2+)-resistant fashion (By similarity). Interacts (via N-terminal) with BAIAP2 (via SH3-domain) (By similarity). Interacts with PFN2 (By similarity).
Subcellular Location:
Cytoplasm, cytoskeleton. Cell projection, stereocilium. Cell projection, microvillus.
DISEASE:
Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 9 ANK repeats.
Contains 1 WH2 domain.
SWISS:
B1AK53
Gene ID:
83715
Database links:
Entrez Gene: 83715 Human
Omim: 606351 Human
SwissProt: B1AK53 Human
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