DFNB31
deafness, autosomal recessive 31
Synonymes:
CIP98, PDZD7B, USH2D, WHRN, WI
Espèce(s):
Human DFNB31 (25861), Rat Dfnb31 (313255), naked mole-rat Dfnb31 (101723114), domestic guinea pig Dfnb31 (100726071), sheep DFNB31 (101118591), dog DFNB31 (612588), cow DFNB31 (533033), chicken DFNB31 (429472), Domestic Rabbit DFNB31 (100355083), domestic cat DFNB31 (101083121)
ID UniProtKB:
ID du gène:
- Human(25861) Summary: This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]
- Rat(313255) deafness, autosomal recessive 31
- naked mole-rat(101723114) deafness, autosomal recessive 31
- domestic guinea pig(100726071) deafness, autosomal recessive 31
- sheep(101118591) deafness, autosomal recessive 31
- dog(612588) deafness, autosomal recessive 31
- cow(533033) deafness, autosomal recessive 31
- chicken(429472) deafness, autosomal recessive 31
- Domestic Rabbit(100355083) deafness, autosomal recessive 31
- domestic cat(101083121) deafness, autosomal recessive 31
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