NTN1 gene
The NTN1 gene provides instructions for making netrin-1, a protein that guides the growth of axons during the development of the nervous system.
Normal Function
The NTN1 gene provides instructions for making a protein called netrin-1, which is involved in the development of the nervous system. This protein attaches (binds) to a protein called the netrin-1 receptor, and these two proteins fit together like a lock and key. The binding of netrin-1 to its receptor helps direct the growth of specialized nerve cell extensions called axons. Axons transmit nerve impulses that can signal muscle movement.
When the brain sends a signal to trigger muscle movement, the signal usually travels from one half of the brain to the opposite side of the body. Binding netrin-1 to its receptor allows axons to develop this signaling pathway.
Health Conditions Related to Genetic Changes
Congenital mirror movement disorder
NTN1 gene variants have been identified in people with congenital mirror movement disorder, a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side of the body. These variants change single protein building blocks (amino acids) in the netrin-1 protein or cause cells to produce an abnormally short version of the protein. Without functional netrin-1 proteins, the growth of axons during nervous system development is not properly directed. As a result, movement signals that originate in one half of the brain are transmitted to both sides of the body, leading to mirror movements.
Other Names for This Gene
- MRMV4
- NET1
- NTN1L
