Espin (protein)

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Espin
Identifiers
Symbols ESPN ; DFNB36
External IDs OMIM606351 MGI1861630 HomoloGene23164 GeneCards: ESPN Gene
Orthologs
Species Human Mouse
Entrez 83715 56226
Ensembl ENSG00000187017 ENSMUSG00000028943
UniProt B1AK53 Q9ET47
RefSeq (mRNA) NM_031475 NM_019585
RefSeq (protein) NP_113663 NP_062531
Location (UCSC) Chr 1:
6.48 – 6.52 Mb
Chr 4:
152.12 – 152.15 Mb
PubMed search [1] [2]

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.[1] Espin is a microfilament binding protein.

Function[edit]

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.[1]

Clinical significance[edit]

Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.[1]

References[edit]

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.