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Espin (protein)

From Wikipedia, the free encyclopedia
ESPN
Identifiers
AliasesESPN, DFNB36, LP2654, Espin, USH1M
External IDsOMIM: 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 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

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187017Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028943Ensembl, 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. ^ a b c "Entrez Gene: espin".

Further reading

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