SOX5
Description
The SOX5 (SRY-box transcription factor 5) is a protein-coding gene located on chromosome 12.
The SOX5 gene encodes a transcription factor involved in regulating embryonic development and cell fate determination. It belongs to the SOX (SRY-related HMG-box) family of transcription factors. This protein may act as a transcriptional regulator by forming complexes with other proteins. It is believed to play a role in chondrogenesis, the process of cartilage formation. Mutations in the SOX5 gene can lead to Lamb-Shaffer syndrome.
SOX5 is a transcription factor crucial for chondrocyte differentiation and cartilage formation. It binds specifically to the 5'-AACAAT-3' DNA motif found in enhancers and super-enhancers, activating genes essential for chondrogenesis, including cartilage matrix protein-coding genes like COL2A1 and AGC1. SOX5, in conjunction with SOX6, enhances SOX9's ability to transactivate by binding to active enhancers and super-enhancers associated with cartilage-specific genes, promoting overt chondrogenesis during the differentiation of condensed prechondrocytes into early-stage chondrocytes. While not involved in precartilaginous condensation, SOX5, along with SOX6, is vital for creating and maintaining a pool of rapidly proliferating chondroblasts between epiphyses and metaphyses. This duo also contributes to the formation of columnar chondroblasts, delays chondrocyte prehypertrophy while promoting hypertrophy, and postpones terminal chondrocyte differentiation upon contact with ossification fronts. Additionally, SOX5 binds to the proximal promoter region of the myelin protein MPZ gene.
SOX5 is also known as L-SOX5, L-SOX5B, L-SOX5F, LAMSHF.
Associated Diseases
- Developmental and speech delay due to SOX5 deficiency
- Lamb-Shaffer syndrome
- Large congenital melanocytic nevus
