Symbol: Name: ID: |
ESPN espin GFS:2922 |
Gene name: | ESPN |
Chromosome: | 1p36.31 |
Previous Symbols: | DFNB36 |
Previous Names: | deafness, autosomal recessive 36 |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1861630 | Rat Genome Database ID: | RGD:620652 |
HGNC ID: | HGNC:13281 | RefSeq IDs: | NM_031475 |
Entrez Gene ID: | 83715 | Ensembl Gene ID: | ENSG00000187017 |
VEGA IDs: | OTTHUMG00000000753 | UniProt ID: | B1AK53 |
UCSC ID: | uc001amy.2 | OMIM ID: | 606351 |
Pubmed: | PMID10975527 PMID 15286153 | ||
CCDS IDs: | CCDSCCDS70.1 |
This gene encodes 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, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Multifunctional actin-bundling protein. 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 (By similarity).
Products for ESPN gene
Catalog | Product Name | Application | Company |
GFS:E02922 | espin; ELISA kit | ELISA | n/a |
GFS:A02922 | espin; Anti | ANTIBODIES | n/a |
GFS:P02922 | espin; Protien | Protien | n/a |