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Relevance to Autism

SLC22A3-deficient male mice were observed to display impaired social behavior in Garbarino et al., 2018. Previous studies in SLC22A3-deficient mice had demonstrated altered aminergic transmission and effects on anxiety and stress (Vialou et al., 2008; Wultsch et al., 2009).

Molecular Function

The protein encoded by the SLC22A3 gene mediates potential-dependent transport of a variety of organic cations and may play a significant role in the disposition of cationic neurotoxins and neurotransmitters in the brain.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Prenatal metformin exposure or organic cation transporter 3 knock-out curbs social interaction preference in male mice.
Support
Decreased anxiety in mice lacking the organic cation transporter 3.
Support
Altered aminergic neurotransmission in the brain of organic cation transporter 3-deficient mice.
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1052R001 
 missense_variant 
 c.682G>C 
 p.Val228Leu 
 Unknown 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
6
Duplication
 1
 
6
Duplication
 1
 
6
Deletion
 3
 
6
Deletion
 2
 
6
Deletion-Duplication
 2
 

No Animal Model Data Available

No PIN Data Available
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