AAI25067.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
36,043 Da
NCBI Official Full Name
DFNA5 protein, partial
NCBI Official Synonym Full Names
gasdermin E
NCBI Protein Information
gasdermin-E
UniProt Protein Name
Gasdermin-E
UniProt Synonym Protein Names
Inversely correlated with estrogen receptor expression 1; ICERE-1; Non-syndromic hearing impairment protein 5
UniProt Synonym Gene Names
NCBI Summary for DFNA5
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]
UniProt Comments for DFNA5
Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 (PubMed:16897187, PubMed:18223688).
Research Articles on DFNA5
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Diseases associated with anti-DFNA5 antibody
Organs/Tissues associated with anti-DFNA5 antibody
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