SOX10 : SRY-box transcription factor 10

Description

The SOX10 (SRY-box transcription factor 10) is a protein-coding gene located on chromosome 22.

The SOX10 gene is part of a family of genes crucial for tissue and organ formation during embryonic development, as well as maintaining the normal function of certain cells after birth. SOX proteins bind to specific DNA regions to control gene activity, acting as transcription factors. During embryonic development, SOX10 is active in neural crest cells, which migrate from the spinal cord and give rise to diverse cell types. SOX10 directs the activity of other genes, like MITF, guiding neural crest cells to become specific cell types. It is essential for the formation of enteric nerves and the production of melanocytes, which produce melanin, contributing to skin, hair, and eye color. Melanin is also important for the inner ear's function.

SOX10 is a transcription factor that plays a critical role in the development and maturation of glial cells. It specifically activates the expression of myelin genes, such as DUSP15 and MYRF, during oligodendrocyte maturation, thereby playing a central role in oligodendrocyte maturation and central nervous system (CNS) myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. SOX10 is also a transcriptional activator of MITF, acting synergistically with PAX3, and a transcriptional activator of MBP, via binding to the gene promoter.

SOX10 is also known as DOM, PCWH, SOX-10, WS2E, WS4, WS4C.

Associated Diseases

• Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
• Waardenburg syndrome, type 2E
• Kallmann syndrome
• Waardenburg-Shah syndrome
• Waardenburg syndrome type 2
• Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
• Waardenburg syndrome, type 4C
• Waardenburg syndrome
• Hirschsprung disease