ESPN
Identifiers
AliasesESPN, DFNB36, LP2654, Espin, USH1M
External IDsOMIM: 606351 MGI: 1861630 HomoloGene: 23164 GeneCards: ESPN
Orthologs
SpeciesHumanMouse
Entrez

83715

56226

Ensembl

ENSG00000187017

ENSMUSG00000028943

UniProt

Q5JYL1

Q9ET47

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[3][4]
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.[5] 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.[5]

Clinical significance

Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, and DFNB36.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000187017 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028943 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 "Entrez Gene: espin".

Further reading

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


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