Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Proteintech
FIGURE: 1 / 1
Immunogen sequence: SQSSFGTLRK QEVDLQQLIR DSAERTINLR NPVLQQVLEG RNEVLCVLTQ KITTMQKCVI SEHMQVEEKC GGIVGIQTKT VQVSATEDGN VTKDSNVVLE IPAATTIAYG VIELYVKLDG QFEFCLLRGK QGGFENKKRI DSVYLDPLVF REFAFIDMPD AAHGISSQDG PLSVLKQATL LLERNFHPFA ELPEPQQTAL SDIFQAVLFD DELLMVLEPV CDDLVSGLSP TVAVLGELKP RQQQDLVAFL QLVGCSLQGG CPGPEDAGSK QLFMTAYFLV SALAEMPDSA AALLGTCCKL QIIPTLCHLL RALSDDGVSD LEDPTLTPLK DTERFGIVQR LFASADISL
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: deafness, autosomal dominant 5; deafness, autosomal dominant 5 homolog; DFNA5, deafness associated tumor suppressor; Gasdermin-E; ICERE-1; Inversely correlated with estrogen receptor expression 1; Non-syndromic hearing impairment protein 5; Non-syndromic hearing impairment protein 5 homolog; nonsyndromic hearing impairment protein
Gene Aliases: 2310037D07Rik; 4932441K13Rik; DFNA5; Dfna5h; EG14210; Fin15; GSDME; ICERE-1; ICERE1
UniProt ID: (Human) O60443, (Mouse) Q9Z2D3
Entrez Gene ID: (Human) 1687, (Mouse) 54722, (Rat) 353316, (Pig) 100522585
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support