Smad Interacting Protein 1 (ZEB2) Antibody – Rabbit Polyclonal

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]

ZEB2: Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin. Defects in ZEB2 are the cause of Mowat-Wilson syndrome (MWIS); also known as Hirschsprung disease-mental retardation syndrome. A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Some patients manifest Hirschsprung disease. 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. Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.

Protein type: Motility/polarity/chemotaxis; Transcription, coactivator/corepressor; C2H2-type zinc finger protein; DNA-binding

Chromosomal Location of Human Ortholog: 2q22.3

Cellular Component: nucleus

Molecular Function: DNA binding; phosphatase regulator activity; metal ion binding

Biological Process: positive regulation of JNK activity; nervous system development; somitogenesis; transcription, DNA-dependent; cell proliferation in forebrain; pigmentation during development; hippocampus development; positive regulation of melanin biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; positive regulation of melanocyte differentiation; neural tube closure; positive regulation of transcription from RNA polymerase II promoter; neural crest cell migration; positive regulation of Wnt receptor signaling pathway

Disease: Mowat-wilson Syndrome