蛋白名称
Zinc finger E-box-binding homeobox 2
免疫原
The antiserum was produced against synthesized peptide derived from human ZEB2. AA range:71-120
特异性
SIP1 Monoclonal Antibody detects endogenous levels of SIP1 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
ZEB2; KIAA0569; SIP1; ZFHX1B; ZFX1B; HRIHFB2411; Zinc finger E-box-binding homeobox 2; Smad-interacting protein 1; SMADIP1; Zinc finger homeobox protein 1b
背景
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010],
功能
disease:Defects in ZEB2 are the cause of Hirschsprung disease-mental retardation syndrome (Hirschsprung disease) [MIM:235730]; also known as Mowat-Wilson syndrome (MWS). Hirschsprung disease is a rare autosomal dominant complex developmental disorder. Individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Additionally, the phenotypic spectrum of facultative congenital anomalies includes short stature, microcephaly, Hirschsprung disease, malformations of the brain (agenesis of corpus callosum, cereb
