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产品信息
H00001687-M01
产品规格
种属反应
Human
宿主/亚型
Mouse
/ IgG2a, kappa
分类
Monoclonal
类型
Antibody
克隆号
1E10
抗原
DFNA5 (NP_004394.1, 111 a.a. approximately 200 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
偶联物
形式
Liquid
浓度
See Label
纯化类型
Affinity chromatography
保存液
PBS, pH 7.4
内含物
no preservative
保存条件
-20° C, Avoid Freeze/Thaw Cycles
运输条件
Ambient (domestic); Wet ice (international)
产品详细信息
Sequence of this protein is as follows: SQSSFGTLRK QEVDLQQLIR DSAERTINLR NPVLQQVLEG RNEVLCVLTQ KITTMQKCVI SEHMQVEEKC GGIVGIQTKT VQVSATEDGN
靶标信息
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.
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生物信息学
蛋白别名: deafness, autosomal dominant 5; Gasdermin-E; 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
