HPA039357
抗-WDR73 兔抗
Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution
别名:
抗-FLJ14888, 抗-HSPC264, 抗-WD重复结构域73
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关于此项目
Conjugate:
unconjugated
Clone:
polyclonal
Application:
immunoblotting
immunohistochemistry
immunohistochemistry
Species reactivity:
human
Citations:
6
Technique(s):
immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:50-1:200
immunohistochemistry: 1:50-1:200
Uniprot accession no.:
产品名称
抗-WDR73 兔抗, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution
biological source
rabbit
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
product line
Prestige Antibodies® Powered by Atlas Antibodies
form
buffered aqueous glycerol solution
species reactivity
human
enhanced validation
recombinant expression
Learn more about Antibody Enhanced Validation
technique(s)
immunoblotting: 0.04-0.4 μg/mL
immunohistochemistry: 1:50-1:200
immunogen sequence
ISGFDGTVQVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLDGNGMDPAPLVTTHTWHPCRPRTLLSATNDASLHVWDW
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Quality Level
Gene Information
human ... WDR73(84942)
相关类别
Biochem/physiol Actions
WDR73在微管组织以及有丝分裂和细胞增殖的调节中起关键作用。WDR73和与细胞周期和细胞存活相关的蛋白质相互作用。WDR73基因突变会导致Galloway-Mowat综合征，这是一种罕见的遗传性疾病，主要影响脑和肾功能。截断的WDR73蛋白导致大脑分化不良，这种特征是基因遗传的。突变还与婴儿的神经退行性疾病有关，特别是与大脑的小脑有关。
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除非我们的产品目录或产品附带的其他公司文档另有说明，否则我们的产品仅供研究使用，不得用于任何其他目的，包括但不限于未经授权的商业用途、体外诊断用途、离体或体内治疗用途或任何类型的消费或应用于人类或动物。
Features and Benefits
Prestige Antibodies®是经过高度表征和广泛验证的抗体，同时还有一个优点是其每个靶标的所有可用表征数据都可以通过位于此页面顶部产品名称下方的人类蛋白质图谱门户进行访问。Prestige Antibodies®对其他蛋白质的独特性和低交叉反应性是通过严密的抗原区域选择、亲和纯化和严格的选择来实现的。每种Prestige 抗体都有相应的Prestige 抗原对照品，可在链接部分找到。
每种Prestige 抗体的检测方法如下：
每种Prestige 抗体的检测方法如下：
- 44种正常人体组织和20种最常见癌症组织的IHC组织阵列。
- 364个人重组蛋白片段的蛋白阵列。
General description
WD重复域73（WDR73）属于WD重复域蛋白家族。该基序包含色氨酸（W）和天冬氨酸（D）的40-60个氨基酸。WDR73基因在肾脏和大脑中广泛表达，位于人染色体15q25.2上。
Immunogen
WD重复域73重组蛋白抗原表位标签（PrEST）
Other Notes
对应抗原APREST81550
Physical form
磷酸盐缓冲盐水溶液，pH 7.2，含有 40% 甘油和 0.02% 叠氮化钠。
Legal Information
Prestige Antibodies is a registered trademark of Merck KGaA, Darmstadt, Germany
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存储类别
10 - Combustible liquids
wgk
WGK 1
flash_point_f
Not applicable
flash_point_c
Not applicable
法规信息
常规特殊物品
此项目有
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome
Colin E, et al.
American Journal of Human Genetics, 95(6), 637-648 (2014)
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
Ben-Omran T, et al.
Journal of medical Genetics, 52(6), 381-390 (2015)
WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
Vodopiutz J, et al.
Human Mutation, 36(11), 1021-1028 (2015)
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Jinks RN, et al.
Brain, 138(8), 2173-2190 (2015)
F C Tilley et al.
Scientific reports, 11(1), 5388-5388 (2021-03-10)
Several studies have reported WDR73 mutations to be causative of Galloway-Mowat syndrome, a rare disorder characterised by the association of neurological defects and renal-glomerular disease. In this study, we demonstrate interaction of WDR73 with the INTS9 and INTS11 components of
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