Aliases for DFNA5 Gene
External Ids for DFNA5 Gene
Previous GeneCards Identifiers for DFNA5 Gene
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for DFNA5 Gene
DFNA5 (Deafness, Autosomal Dominant 5) is a Protein Coding gene. Diseases associated with DFNA5 include deafness, autosomal dominant 5 and dfna 5 nonsyndromic hearing loss and deafness. An important paralog of this gene is DFNB59.
UniProtKB/Swiss-Prot for DFNA5 Gene
Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.