Espin (protein) (Redirected from ESPN (gene))

ESPN
Identifiers
AliasesESPN, DFNB36, LP2654, Espin, USH1M
External IDsOMIM: 606351 MGI: 1861630 HomoloGene: 23164 GeneCards: ESPN
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031475
NM_001367473
NM_001367474

RefSeq (protein)

NP_113663
NP_001354402
NP_001354403

Location (UCSC)Chr 1: 6.42 – 6.46 MbChr 4: 152.2 – 152.24 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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. Espin is a microfilament binding protein.

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.

Clinical significance

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



This page was last updated at 2023-11-29 00:39 UTC. Update now. View original page.

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