图: 1 / 2
Peptide sequence: AALLGTCCKL QIIPTLCHLL RALSDDGVSD LEDPTLTPLK DTERFGIVQR
Sequence homology: Cow: 85%; Dog: 77%; Guinea Pig: 83%; Human: 100%; Rat: 85%
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.
蛋白别名: deafness, autosomal dominant 5; Gasdermin-E; Gasdermin-E, C-terminal; Gasdermin-E, N-terminal; GSDME-CT; GSDME-NT; ICERE-1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing impairment protein 5; nonsyndromic hearing impairment protein
基因别名: DFNA5; GSDME; ICERE-1; ICERE1
UniProt ID: (Human) O60443
Entrez Gene ID: (Human) 1687