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SRY-box transcription factor 6 (SOX6)

Target: SOX6
Molecular classification: Transcription factor, SOX family, SOXD subfamily (includes Sox5, Sox6, Sox13)

Overview

SRY-box transcription factor 6 (SOX6) is a highly conserved DNA-binding protein that belongs to the SOXD subfamily of the SOX transcription factor family. It is characterized by a high mobility group (HMG) DNA-binding domain and drives key processes in cartilage formation, neurogenesis, erythrocyte development, and muscle maintenance by modulating transcription of lineage-specific genes. SOX6 often cooperates with related SOX proteins (notably SOX5 and SOX9) and other protein cofactors, exerting both activating and repressive effects on gene expression depending on cellular context. Dysregulation of SOX6 is implicated in skeletal abnormalities, neurodevelopmental conditions, and some cancers.

Other names: SOX6Transcription factor SOX-6HSSOX6SOXDTOLCASSRY (sex determining region Y)-box 6SRY-box 6SRY-box containing gene 6

Biological functions

DNA binding and gene regulationChondrocyte differentiation and cartilage formationRegulation of neurogenesis and central nervous system developmentMaintenance of cardiac and skeletal muscle cellsParticipation in erythrocyte maturationModulation of cell cycle exit and proliferation

Disease associations

Skeletal dysplasias (Tolchin-Le Caignec Syndrome)Autism spectrum disorderTumor growth (Ewing sarcoma)Various developmental disorders

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