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- Table of Contents
Facts about Espin.
Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a vital role in the formation and maintenance of inner ear hair cell stereocilia (PubMed:21455486).
Mouse | |
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Gene Name: | Espn |
Uniprot: | Q9ET47 |
Entrez: | 56226 |
Belongs to: |
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No superfamily |
autosomal recessive deafness type 36 protein; DKFZp434A196; DKFZp434G2126; espin
Mass (kDA):
94.497 kDA
Mouse | |
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Location: | 4 E2|4 82.9 cM |
Sequence: | 4; |
Expressed at high concentration in the microvillar parallel actin bundle (PAB) of hair cells stereocilia in the cochlea and vestibular system. Detected also at high levels of a number of other sensory cell types, including taste receptor cells, solitary chemoreceptor cells, vomeronasal sensory neurons and Merkel cells. Isoforms 2, 3, 4 and 5 are expressed in Purkinje cells dendritic spines. Expressed in utricle hair bundles (at protein level) (PubMed:26926603).
PMID: 10975527 by Zheng L., et al. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.
PMID: 12598619 by Sekerkova G., et al. Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53.