Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ESPN

Gene name: espin
OMIM ID: 606351
Chromosome location: 1p36.31

Mutations

Disease/PhenotypeDeafness, autosomal recessive 36
Reference transcriptNM_031475.2
DNA Changec.1757insG
A.A. Changep.C585fs71X
Exon/Intronexon 8
Mutation Typeinsertion
ReferenceBoulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, N?rnberg G, Becker C, N?rnberg P, Kubisch C, Wollnik B, Barakat A.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. 2008 Dec 1;146A(23):3086-9.