Espin, poznat i kao protein 36 autosomno recesivne gluhoće tipa 36 ili protein ektoplazmatske specializacije, jest protein koji je kod ljudikodirangenomESPN sa hromosoma 1.[1] Espin je mikrofilament-vezujući protein.
Espin je multifunkcionalni protein koji povezuje aktin. Ima glavnu ulogu u regulaciji organizacije, dimenzija, dinamike i signalnih kapaciteta specijalizacija tipa mikrovilusa bogatih aktinskim filamentima koji posreduju u senzornoj transdukciji u različitim mehanosenzornim i hemosenzornim ćelijama.[1]
Klinički značaj
Mutacije ovog gena su povezane s autosomno recesivnom neurosenzornom gluhoćom, autosomno dominantnom senzornervnom gluhoćom bez vestibulnog zahvata i DFNB36.[1]
Boulouiz R, Li Y, Soualhine H, et al. (2008). "A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family". Am. J. Med. Genet. A. 146A (23): 3086–9. doi:10.1002/ajmg.a.32525. PMID18973245. S2CID33443367.
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