SOX1
SOX1
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
