Entrez 6658 | Ensembl ENSG00000134595 | |
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Aliases SOX3, GHDX, MRGH, PHP, PHPX, SOXB, SRY-box 3 External IDs MGI: 98365 HomoloGene: 4118 GeneCards: SOX3 |
Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator. Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.
References
SOX3 Wikipedia(Text) CC BY-SA