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SLITRK1

From SNPedia
is agene
is mentioned by
Full nameSLIT and NTRK like family member 1
EntrezGene114798
PheGenI114798
VariationViewer114798
ClinVarSLITRK1
GeneCardsSLITRK1
dbSNP114798
DiseasesSLITRK1
SADR114798
HugeNav114798
wikipediaSLITRK1
googleSLITRK1
gopubmedSLITRK1
EVSSLITRK1
HEFalMpSLITRK1
MyGene2SLITRK1
23andMeSLITRK1
UniProtQ96PX8
EnsemblENSG00000178235
OMIM609678
# SNPs6
 Max MagnitudeChromosome positionSummary
rs1035448844583,879,757
rs1368546312583,879,731
rs150504822583,880,256
rs191284403583,878,728
rs193302861583,880,244
rs9546538083,882,600

The "SLIT and TRK like 1" (SLITRK1) gene, located on chromosome 13, encodes an integral membrane protein that shares some homology with TRK neurotrophin receptors. Mutations in the SLITRK1 gene have been associated with Trichotillomania and Gilles De La Tourette syndrome, although some subsequent studies have failed to replicate the findings in different populations. Mutations in SLITRK1 have also been reported as potentially pathogenic for obsessive compulsive disorder (OCD).

SLITRK1 mutations reported as pathogenic (in heterozygous genotypes) for Tourette's and trichotillomania include:


For OCD, the most robust report of a SLITRK1 mutation so far is likely to be c.1099T<A (p.N400I), which lacks an rsID at this time. An additional mutation, rs150504822 (c.1252T<A; p.T418S), is also potentially OCD-related.[PMID 23990902OA-icon.png]