SOX1: Difference between revisions

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'''SOX1'''
{{Infobox protein
| name = SOX1
| image = <!-- Image of the protein, if available -->
| caption = <!-- Caption for the image -->
| symbol = SOX1
| alt_symbols = <!-- Alternative symbols for the protein -->
| hgnc_id = 11188
| omim = 602148
| refseq = NM_005986
| uniprot = P35716
| chromosomal_location = 13q34
}}


[[File:SOX1.png|thumb|right|250px|SOX1 gene is located on the long (q) arm of chromosome 13 at position 12.1]]
'''SOX1''' is a member of the [[SOX gene family]], which is involved in the regulation of embryonic development and in the determination of cell fate. The SOX1 gene encodes a transcription factor that is crucial for the development of the [[central nervous system]].
 
'''SOX1''' (SRY-Box Transcription Factor 1) is a [[protein]] coding [[gene]] in humans. It is a member of the [[SOX (gene family)|SOX gene family]], which is characterized by the presence of a [[High mobility group|High-Mobility Group (HMG)]] domain. The SOX1 gene is involved in the regulation of [[embryonic development]] and in the determination of cell fate.


== Function ==
== Function ==
SOX1 plays a significant role in the maintenance of [[neural progenitor cells]] and is essential for the proper development of the [[brain]] and [[spinal cord]]. It functions by binding to the [[DNA]] of target genes and regulating their expression. This regulation is critical for the differentiation of [[neurons]] and [[glial cells]].


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 (anatomy)|lens]] in the eye.
== Clinical Significance ==
Mutations or dysregulation of the SOX1 gene have been associated with various [[neurological disorders]] and [[cancers]]. SOX1 is often studied in the context of [[small cell lung cancer]] (SCLC), where it can act as a [[tumor suppressor gene]].


== Clinical significance ==
== Research ==
Research on SOX1 continues to explore its role in [[neurogenesis]] and its potential as a [[biomarker]] for certain types of cancer. Studies have shown that SOX1 expression can be used to identify [[stem cells]] in the [[nervous system]] and may have implications for [[regenerative medicine]].


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 disease]]s such as [[Lambert-Eaton syndrome]].
== See Also ==
 
* [[SOX2]]
== See also ==
 
* [[SOX genes]]
* [[Transcription factor]]
* [[Transcription factor]]
* [[Neurogenesis]]
* [[Embryonic development]]


== References ==
== References ==
<references/>


<references />
== External Links ==
 
* [https://www.ncbi.nlm.nih.gov/gene/6656 SOX1 Gene - NCBI]
== External links ==
* [https://www.uniprot.org/uniprot/P35716 SOX1 Protein - UniProt]
 
* [https://www.ncbi.nlm.nih.gov/gene/6657 SOX1] at the [[National Center for Biotechnology Information]]


{{SOX genes}}
{{SOX gene family}}
{{Transcription factors}}
{{Transcription factors}}
{{anatomy-stub}}


[[Category:Genes]]
[[Category:Transcription factors]]
[[Category:Transcription factors]]
[[Category:Developmental genes and proteins]]
[[Category:Human proteins]]
[[Category:Human proteins]]
[[Category:Developmental biology]]
[[Category:Genes on human chromosome 13]]
[[Category:Neuroscience]]

Latest revision as of 20:37, 30 December 2024


SOX1 is a member of the SOX gene family, which is involved in the regulation of embryonic development and in the determination of cell fate. The SOX1 gene encodes a transcription factor that is crucial for the development of the central nervous system.

Function[edit]

SOX1 plays a significant role in the maintenance of neural progenitor cells and is essential for the proper development of the brain and spinal cord. It functions by binding to the DNA of target genes and regulating their expression. This regulation is critical for the differentiation of neurons and glial cells.

Clinical Significance[edit]

Mutations or dysregulation of the SOX1 gene have been associated with various neurological disorders and cancers. SOX1 is often studied in the context of small cell lung cancer (SCLC), where it can act as a tumor suppressor gene.

Research[edit]

Research on SOX1 continues to explore its role in neurogenesis and its potential as a biomarker for certain types of cancer. Studies have shown that SOX1 expression can be used to identify stem cells in the nervous system and may have implications for regenerative medicine.

See Also[edit]

References[edit]

<references/>

External Links[edit]

Template:SOX gene family