SUN3
Unveiling the SUN3 Gene: A Gateway to Understanding Neurological Disorders
Description
The sun3 gene, located on chromosome 19, encodes the SUN3 protein, a member of the Sad1-UNC84 (SUN) domain family. SUN proteins play a crucial role in nuclear architecture and function by bridging the nuclear envelope to the cytoskeleton.
SUN3 specifically localizes to the inner nuclear membrane and interacts with the nuclear lamina, a protein meshwork that provides structural support and regulates gene expression. It is involved in maintaining nuclear shape, positioning, and anchoring transcription factors to specific genomic loci.
Associated Diseases
Mutations in the sun3 gene have been linked to a range of neurological disorders, including:
- Primary microcephaly: A birth defect characterized by an abnormally small head size due to impaired brain growth.
- Microcephalic primordial dwarfism: A genetic disorder that combines microcephaly with growth failure, intellectual disability, and distinctive facial features.
- Lissencephaly: A rare brain malformation that results in a smooth, underdeveloped cerebral cortex.
- Congenital muscular dystrophy: A group of genetic disorders characterized by muscle weakness and wasting from birth.
Did you Know ?
One study found that 1 in 10 patients with primary microcephaly have mutations in the sun3 gene. This emphasizes the significant role of SUN3 in regulating brain development.
