83715
56226
ENSG00000187017
ENSMUSG00000028943
Q5JYL1
Q9ET47
NM_031475NM_001367473NM_001367474
NM_207691
NP_113663NP_001354402NP_001354403
NP_997574
Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene.[5] Espin is a microfilament binding protein.
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.[5]
Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.[5]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
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