SOX5
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.[1][2]
Function
[edit | edit source]This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[2]
Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome.[3][4]
See also
[edit | edit source]References
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Further reading
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