SOX1

SOX1

File:SOX1.png

SOX1 gene is located on the long (q) arm of chromosome 13 at position 12.1

SOX1 (SRY-Box Transcription Factor 1) is a protein coding gene in humans. It is a member of the SOX gene family, which is characterized by the presence of a High-Mobility Group (HMG) domain. The SOX1 gene is involved in the regulation of embryonic development and in the determination of cell fate.

Function

SOX1 is a critical gene for neural development. It is expressed in the neural plate and later in the neural tube, where it plays a crucial role in neurogenesis. It is also involved in the development of the lens in the eye.

Clinical significance

Mutations in the SOX1 gene have been associated with several medical conditions. These include hypopituitarism, a condition characterized by a deficiency in one or more of the pituitary gland's hormones, and autoimmune diseases such as Lambert-Eaton syndrome.

See also

• SOX genes
• Transcription factor
• Neurogenesis

External links

• SOX1 at the National Center for Biotechnology Information

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