4RCA, 4RCW11479876965ENSG00000178235ENSMUSG00000075478Q96PX8Q810C1NM_052910NM_001281503NM_199065NP_001268432NP_443142NP_951020SLITRK1 ("SLIT and NTRK-like family, member 1") is a human gene that codes for a transmembrane and signalling protein that is part of the SLITRK gene family, which is responsible for synapse regulation and presynaptic differentiation in the brain.

[5][6][7] Expression of the gene has been linked to early formation of excitatory synapses through binding with receptor tyrosine phosphatase PTP (LAR-RPTP).

SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003).

The mRNA can differ from alternative splicing, and contains domains for the extracellular matrix as well as for the LRRs.

[6] The protein also contains a short intracellular domain, but lacks a tyrosine phosphorylation motif which is present in other SLITRK genes.

[5] Since they lack tyrosine phosphorylation motifs, SLITKR1 binds to LAR-RPTP through its LRR1 region in order to differentiate synapses.

[13][14] Rare variants in SLITRK1 may lead to TS, and mutations in non-coding regions of SLITRK1 may also play a part, but further research needs to be done before any conclusions can be drawn.

[14][16] A subsequent examination of the region of the SLITRK1 gene found the mutation in none of 82 patients with Tourette syndrome.

The authors concluded that tests to detect variant(s) in the gene probably would have little diagnostic utility.

[11] The SLITRK1 gene has also been implicated in a small percentage of cases of trichotillomania, an impulse disorder in which individuals compulsively pull their own hair.