SALL1

SALL1 (Sal-like protein 1) is a protein that in humans is encoded by the SALL1 gene located on chromosome 16 at the q12.1 position. This gene plays a critical role in the development of the organism and is particularly noted for its involvement in Townes-Brocks syndrome, a rare genetic disorder characterized by imperfections in the physical development and multiple organ systems.

Function

SALL1 is a member of the spalt-like family of proteins, which are transcription factors implicated in the regulation of developmental processes. The protein encoded by this gene contains multiple zinc finger motifs, which are typical of transcription factors, suggesting its role in gene regulation. SALL1 is essential for normal development, and mutations in this gene can lead to various congenital anomalies.

Genetic Structure

The SALL1 gene contains several exons and encodes a protein that is involved in the transcriptional regulation of genes necessary for normal development. The gene's expression is critical during early embryonic development, and it continues to play roles in various tissues throughout life.

Clinical Significance

Mutations in the SALL1 gene are primarily associated with Townes-Brocks syndrome, which is characterized by abnormalities such as thumb malformations, renal anomalies, and hearing loss. The syndrome follows an autosomal dominant pattern of inheritance, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Research

Research on SALL1 has focused on understanding its role in development and disease. Studies have explored how its dysfunction leads to the symptoms observed in Townes-Brocks syndrome and other developmental disorders. Further research aims to uncover potential therapeutic targets or interventions that could mitigate the effects of mutations in this gene.

See Also

• Transcription factor
• Zinc finger
• Genetic disorder
• Autosomal dominant inheritance