Espin (protein)

Last updated
ESPN
Identifiers
Aliases ESPN , DFNB36, LP2654, Espin, USH1M
External IDs OMIM: 606351; MGI: 1861630; HomoloGene: 23164; GeneCards: ESPN; OMA:ESPN - orthologs
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 Mb Chr 4: 152.2 – 152.24 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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.

Contents

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.