Total SIP1 Cell-Based Colorimetric ELISA Kit
- 货号：KA3471C
- 应用：ELISA
- 种属：Human;Mouse;Rat
- 其他名称：
- Zinc finger E-box-binding homeobox 2 (Smad-interacting protein 1) (SMADIP1) (Zinc finger homeobox protein 1b)
- 背景：
- 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, cerebral atrophy) and eye (microphthalmia), seizures, congenital heart defects and genitourinary malformations, in particular hypospadias. The development of psychomotor skills and speech is delayed in most patients. Overall, the grade of mental retardation is at least moderate, but usually severe including characteristic abnormal behavior.,function:Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin.,PTM:Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity.,similarity:Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 7 C2H2-type zinc fingers.,subunit:Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1.,
- 功能：
- ameboidal cell migration, neural crest cell migration, somitogenesis, embryonic epithelial tube formation, neural tube formation, neural tube closure, regulation of protein amino acid phosphorylation, morphogenesis of an epithelium,regionalization, transcription, regulation of transcription, DNA-dependent, cell motion, pattern specification process,cell proliferation, embryonic development ending in birth or egg hatching, negative regulation of biosynthetic process,anterior/posterior pattern formation, positive regulation of signal transduction, negative regulation of macromolecule biosynthetic process, negative regulation of macromolecule metabolic process, regulation of protein kinase cascade,negative regulation of gene expression, positive regulation of cell communication, primary neural tube formation,mesenchymal cell development, neural crest cell development, neural crest cell diff
- 细胞定位：
- Nucleus . Chromosome .
