Espin (protein)

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ESPN
Identifiers
Aliases ESPN, DFNB36, LP2654, Espin
External IDs MGI: 1861630 HomoloGene: 23164 GeneCards: ESPN
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031475

RefSeq (protein)

NP_113663.2

NP_997570.1
NP_997571.1
NP_997572.1
NP_997573.1
NP_997574.2

Location (UCSC) Chr 1: 6.42 – 6.46 Mb Chr 4: 152.12 – 152.15 Mb
PubMed search [1] [2]
Wikidata
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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.[3] 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.[3]

Clinical significance[edit]

Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.[3]

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.