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Espin (protein)

ESPN
Identifiers
Aliases ESPN, DFNB36, LP2654, Espin
External IDs MGI: 1861630 HomoloGene: 23164 GeneCards: ESPN
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)
Chromosome 1 (human)
Genomic location for ESPN
Genomic location for ESPN
Band No data available Start 6,424,788 bp
End 6,461,370 bp
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031475

RefSeq (protein)

NP_113663

Location (UCSC) Chr 1: 6.42 – 6.46 Mb Chr 1: 152.12 – 152.15 Mb
PubMed search

NM_031475

NM_207691

NP_113663

NP_997574

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.

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.

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

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



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