DFNA5 Proteins

Protein Information

DFNA5 (deafness, autosomal dominant 5), also known as ICERE-1, is a 496 amino acid protein that is expressed in cochlea tissue, as well as in placenta, brain, heart, liver, lung and pancreas as two alternatively spliced isoforms, designated short and long. Defects in the gene encoding DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5), a form of sensorineural hearing loss that results from damage to one of various structures that receive sound information in the brain. The gene encoding DFNA5 maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.

Synonyms

2310037D07Rik; 4932441K13Rik; deafness, autosomal dominant 5; deafness, autosomal dominant 5 (human); deafness, autosomal dominant 5 homolog; Dfna5; DFNA5, deafness associated tumor suppressor; Dfna5h; EG14210; Fin15; Gasdermin-E; Gasdermin-E, C-terminal; Gasdermin-E, N-terminal; GSDME; GSDME-CT; GSDME-NT; ICERE1; ICERE-1; Inversely correlated with estrogen receptor expression 1; nonsyndromic hearing impairment protein; non-syndromic hearing impairment protein 5; Non-syndromic hearing impairment protein 5 homolog