SOX30
The SOX30 Gene: A Transcription Factor Essential for Brain Development
Description
The SOX30 gene, located on chromosome 17, encodes the SOX30 protein, a member of the SOX family of transcription factors. Transcription factors are proteins that regulate gene expression by binding to specific DNA sequences and either promoting or inhibiting the transcription of nearby genes. SOX30 plays a crucial role in early embryonic development, particularly in the formation of the brain and other neural structures.
Associated Diseases
Mutations in the SOX30 gene have been linked to a spectrum of developmental disorders known as SOX30 syndromes. These syndromes are characterized by a range of developmental abnormalities, including:
- Microcephaly (a smaller-than-normal head size)
- Intellectual disability
- Epilepsy
- Autism spectrum disorder
- Ocular colobomas (holes in the iris or retina)
- Growth delays
Did you Know ?
SOX30 mutations are estimated to occur in approximately 1 in 43,000 live births.
