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 (DFNA5, Deafness Associated Tumor Suppressor) 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
Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688, PubMed:21522185). The N-terminal moiety promotes pyroptosis and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).