Espin (protein)

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.

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

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. GRCh38: Ensembl release 89: ENSG00000187017 - Ensembl, May 2017
  2. 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. "Entrez Gene: espin".

Further reading

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.