SATB2

SATB2 is a gene that encodes a DNA-binding protein involved in transcription regulation and chromatin remodeling. It is located on the chromosome 2 in humans and plays a crucial role in the development of the craniofacial region, neurons, and osteoblasts.

Function

The SATB2 gene provides instructions for making a protein that is involved in the development of the body's tissues and organs. This protein acts as a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. Researchers believe that the SATB2 protein has a role in the development of the jaw, teeth, and palate.

Clinical significance

Mutations in the SATB2 gene are associated with SATB2-associated syndrome, a condition characterized by developmental delay, intellectual disability, behavioral problems, and distinctive facial features. These mutations often result in the production of an abnormally short, nonfunctional SATB2 protein. Without functional SATB2 protein, normal development of several body systems is disrupted, leading to the varied signs and symptoms of SATB2-associated syndrome.

Research

Research is ongoing to understand the full spectrum of features and variability associated with SATB2-associated syndrome. Current research is focused on understanding the role of the SATB2 gene in normal development and how mutations in this gene lead to the features of SATB2-associated syndrome.

See also

• Transcription factor
• Chromatin remodeling
• Gene
• DNA-binding protein
• SATB2-associated syndrome