SLITRK5 Chromosome 13
SLIT and NTRK like family member 5
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What This Gene Does
Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
SLIT and NTRK like family
Locus Type
gene with protein product
Location
13q31.2
Ensembl
ENSG00000165300
Associated Conditions (2)
Autism spectrum disorder
Abnormal brain morphology
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1473886214 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS368879058 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1060499750 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |