non-syndromic hearing impairment protein 5 (inversely correlated with estrogen receptor expression 1, ICERE-1, DFNA5, ICERE1)

Function

• belongs to the gasdermin family

Alternative splicing

named isoforms=2

Expression

• expressed in cochlea
• low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney & pancreas
• highest expression in placenta

Pathology

• defects in DFNA5 are the cause of autosomal dominant non-syndromic sensorineural deafness 5

More general terms

• other protein

Additional terms

• hereditary nonsyndromic hearing loss

Database

• OMIM: https://mirror.omim.org/entry/600994
• UniProt: http://www.uniprot.org/uniprot/O60443.html