SLITRK1 Chromosome 13
SLIT and NTRK like family member 1
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What This Gene Does
This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
SLIT and NTRK like family
Locus Type
gene with protein product
Location
13q31.1
Ensembl
ENSG00000178235
Associated Conditions (2)
Tourette syndrome
Trichotillomania
Key Variants
RS746270900
Conflicting classifications of pathogenicity
Tourette syndrome, Tourette syndrome
Health Risk
RS77908553
Conflicting classifications of pathogenicity
Tourette syndrome, Tourette syndrome
Health Risk
RS191284403
Pathogenic
Tourette syndrome, Tourette syndrome
Health Risk
RS193302861
Pathogenic
Trichotillomania, Tourette syndrome, Trichotillomania
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746270900 | Health Risk | Conflicting classifications of pathogenicity | Tourette syndrome, Tourette syndrome |
| RS77908553 | Health Risk | Conflicting classifications of pathogenicity | Tourette syndrome, Tourette syndrome |
| RS191284403 | Health Risk | Pathogenic | Tourette syndrome, Tourette syndrome |
| RS193302861 | Health Risk | Pathogenic | Trichotillomania, Tourette syndrome, Trichotillomania |