SLC22A3
Homo sapiens
Gene Name: solute carrier family 22 member 3
Aliases: EMT, EMTH, OCT3
Chromosome No: 6
Chromosome Band: 6q25.3
Genetic Category: Functional-Rare single gene variant
Aliases: EMT, EMTH, OCT3
Chromosome No: 6
Chromosome Band: 6q25.3
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: 0
ASD Reports: 4
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: 0
Associated Disorders: |
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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.
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
Altered aminergic neurotransmission in the brain of organic cation transporter 3-deficient mice.
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD