SLITRK1
SLITRK1 is a protein that in humans is encoded by the SLITRK1 gene. It is a member of the SLITRK family, which are integral membrane proteins that have been implicated in neuronal development. Mutations in this gene have been linked to Tourette syndrome.
Function
SLITRK1 is a member of the SLITRK protein family. These proteins are integral membrane proteins that are involved in the development of neurons. They are characterized by two leucine-rich repeat (LRR) domains and a carboxy-terminal domain that shares homology with bacterial and viral proteins.
SLITRK1 is expressed in the brain, particularly in the cerebral cortex, hippocampus, and thalamus. It has been shown to play a role in neurite outgrowth and may be involved in the development of the nervous system.
Clinical significance
Mutations in the SLITRK1 gene have been associated with Tourette syndrome, a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The exact mechanism by which these mutations lead to Tourette syndrome is not yet fully understood.
See also
References
External links
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Contributors: Prab R. Tumpati, MD