SOX13
Description
The SOX13 (SRY-box transcription factor 13) is a protein-coding gene located on chromosome 1.
SOX13 is a gene that encodes a transcription factor involved in embryonic development and cell fate determination. The encoded protein acts as a transcriptional regulator, forming complexes with other proteins. It is also an autoantigen associated with type 1 diabetes. SOX13 expression in melanocytic cells is regulated by MITF.
SOX13 is a transcription factor that binds to DNA at the consensus sequence 5'-AACAAT-3'. It is involved in the differentiation of oligodendroglia in the developing spinal tube by binding to the proximal promoter region of the myelin protein MPZ gene. SOX13 also acts as a transcriptional repressor by binding to the gene promoter of MBP. It interacts with TCF7/TCF1, inhibiting transcription and modulating the development and differentiation of IL17A expressing gamma-delta T-cells. SOX13 regulates the expression of BLK in the differentiation of IL17A expressing gamma-delta T-cells and promotes brown adipocyte differentiation. SOX13 is an inhibitor of WNT signaling.
SOX13 is also known as ICA12, Sox-13.
Associated Diseases
- endometrial cancer
- Okt4 epitope deficiency
- hemoglobin D disease
- combined immunodeficiency with skin granulomas
- type 1 diabetes mellitus
- alopecia
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin E disease
- immunodeficiency 18
- dominant beta-thalassemia
- severe combined immunodeficiency due to CTPS1 deficiency
- severe combined immunodeficiency due to CARD11 deficiency
- reticular dysgenesis
- Miyoshi myopathy
- primary familial polycythemia due to EPO receptor mutation
- hemoglobin E-beta-thalassemia syndrome
