SEPT7P9
The sept7p9 Gene: A Gateway to Understanding Neurological Disorders
Description
The sept7p9 gene resides on chromosome 16p13.12 and plays a crucial role in the formation and function of the central nervous system (CNS). It encodes a protein known as Septin-7, a member of the septin family of GTPases. Septins are involved in diverse cellular processes, including cytoskeletal organization, cell division, and membrane trafficking.
Associated Diseases
Mutations in the sept7p9 gene have been linked to several neurological disorders, including:
- Microcephaly: A congenital disorder characterized by an abnormally small head and brain.
- Lissencephaly: A condition where the brain surface lacks its normal folds and grooves.
- Schizencephaly: A developmental defect resulting in clefts or gaps in the brain.
- Intellectual disability: A range of cognitive impairments that affect daily functioning.
Did you Know ?
Studies have shown that mutations in sept7p9 are present in approximately 1 in 100,000 individuals, making it a relatively rare cause of neurological disorders. However, its impact on affected individuals can be profound.
