SOX5
Protein-coding gene in Homo sapiens
From Wikipedia, the free encyclopedia
Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.[5][6]
External IDsOMIM: 604975; MGI: 98367; HomoloGene: 21378; GeneCards: SOX5; OMA:SOX5 - orthologs
Function
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.[6]
Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome.[7][8]
