SALL2
SALL2 (Sal-like protein 2) is a protein that in humans is encoded by the SALL2 gene. This gene is a member of the Spalt family of transcription factors, which are characterized by the presence of multiple zinc finger domains. These proteins play critical roles in embryonic development, cell differentiation, and cell proliferation.
Function[edit | edit source]
SALL2 is involved in the regulation of gene expression during development and in the maintenance of stem cell properties. It acts as a tumor suppressor in various types of cancer, including ovarian cancer and glioma. The protein is thought to function in the repression of cell cycle progression and in the induction of apoptosis, thereby playing a role in the control of cell growth and cell survival.
Gene and Expression[edit | edit source]
The SALL2 gene is located on chromosome 14 (14q11.2-q12) in humans. It is expressed in various tissues, with higher levels observed in the brain, kidney, and ovary. The expression of SALL2 is regulated by epigenetic mechanisms, including DNA methylation, which can lead to the silencing of the gene in cancer cells.
Clinical Significance[edit | edit source]
Alterations in the expression of SALL2 have been associated with the development and progression of several types of cancer. Loss of SALL2 expression, due to genetic or epigenetic modifications, has been observed in ovarian cancer, glioma, and other malignancies, suggesting its role as a tumor suppressor. Moreover, SALL2 has been implicated in neurodevelopmental disorders and is considered a candidate gene for involvement in intellectual disability and autism spectrum disorders.
Research[edit | edit source]
Research on SALL2 continues to uncover its roles in cellular processes and disease. Studies have focused on understanding how SALL2 regulates gene expression, its interaction with other proteins and DNA, and its potential as a target for cancer therapy. The development of therapeutic strategies aimed at restoring the function of SALL2 in cancer cells is an area of ongoing investigation.
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Contributors: Prab R. Tumpati, MD