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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
