SEPT7P2
SEPT7P2 Gene: A Comprehensive Guide
Description
The SEPT7P2 gene provides instructions for synthesizing a protein called septin-7P2, a member of the septin family of proteins. Septins are involved in various cellular processes, including cell division, membrane trafficking, and cell signaling.
SEPT7P2 plays a crucial role in cytokinesis, the process by which a cell divides into two daughter cells. It localizes to the cytokinetic midbody, a structure that helps divide the cell equatorially. During cytokinesis, SEPT7P2 interacts with other septins and motor proteins to form a contractile ring that pinches the cell membrane inward, ultimately separating the two daughter cells.
Associated Diseases
Mutations in the SEPT7P2 gene have been linked to several human diseases, primarily involving the nervous system. These conditions include:
- Charcot-Marie-Tooth Disease Type 4A (CMT4A): A progressive neurological disorder affecting the peripheral nerves, leading to muscle weakness and atrophy, especially in the feet and hands.
- Congenital Lethal Contracture Syndrome: A rare disorder that affects muscle development, resulting in limb contractures at birth and often leading to respiratory difficulties.
- Microcephaly: A condition characterized by a small head size, which can be accompanied by developmental delays and cognitive impairment.
- Autism Spectrum Disorder (ASD): A neurodevelopmental disorder affecting social interaction and communication.
Did you Know ?
- Approximately 30% of CMT4A cases worldwide are caused by mutations in the SEPT7P2 gene.
