SATB2 Antibody – Rabbit Polyclonal

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]

SATB2: Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper- layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation. Chromosomal aberrations involving SATB2 are found in isolated cleft palate. Translocation t(2;7); translocation t(2;11). Defects in SATB2 are a cause of cleft palate isolated (CPI). A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, mental retardation, and osteoporosis. A chromosomal aberration involving SATB2 is found in a patient with classical features of Toriello-Carey syndrome. Translocation t(2;14)(q33;q22). Belongs to the CUT homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 2q33

Cellular Component: nucleoplasm; transcription factor complex; nuclear matrix; cytoplasm; histone deacetylase complex

Molecular Function: protein binding; sequence-specific DNA binding; chromatin binding

Biological Process: chromatin remodeling; transcription, DNA-dependent; commitment of a neuronal cell to a specific type of neuron in the forebrain; cartilage development; neuron migration; positive regulation of transcription from RNA polymerase II promoter; palate development; negative regulation of transcription from RNA polymerase II promoter; embryonic pattern specification; osteoblast development; embryonic skeletal morphogenesis

Disease: Glass Syndrome