SOX1
Description
The SOX1 (SRY-box transcription factor 1) is a protein-coding gene located on chromosome 13.
SOX1 is a gene that encodes a transcription factor crucial for neurogenesis, particularly in the development of the central nervous system and the eye. It belongs to the SOX gene family, specifically the SOXB1 group, alongside SOX2 and SOX3, all related to the testis-determining factor SRY. In the developing embryo, SOX1 expression is restricted to the neuroectoderm, where it plays a role in the maintenance of neural progenitor cell identity. SOX1 is one of the earliest transcription factors expressed in ectodermal cells committed to a specific cell fate, and its expression is first detected in the late head fold stage. SOX1 has functional redundancy with SOX3 and to a lesser degree SOX2 in eye development.
Clinical Significance:
- Striatum Development: SOX1 is particularly expressed in the ventral striatum, and its deficiency in mice leads to altered striatum development and conditions like epilepsy.
- Lens Development: SOX1 directly regulates gamma-crystallin genes, which are vital for lens development in mice.
SOX1 is also known as -.
Associated Diseases
- cancer
- glioblastoma
- congenital primary aphakia
- microphthalmia, isolated, with coloboma 10
- autosomal dominant keratitis
- microphthalmia, isolated, with coloboma 7
- Peters anomaly
