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References

These sources were used to develop the Genetics Home Reference gene summary on the ESPN gene.

Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. J Med Genet. 2006 Feb;43(2):157-61. Epub 2005 Jun 1. PubMed citation
Entrez Gene
Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet. 2004 Aug;41(8):591-5. PubMed citation
Sekerková G, Zheng L, Loomis PA, Changyaleket B, Whitlon DS, Mugnaini E, Bartles JR. Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells. J Neurosci. 2004 Jun 9;24(23):5445-56. PubMed citation
Sekerková G, Zheng L, Loomis PA, Mugnaini E, Bartles JR. Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli. Cell Mol Life Sci. 2006 Oct;63(19-20):2329-41. Review. PubMed citation

Reviewed: November 2006

Published: May 20, 2013