SLC16A3
Homo sapiens
Gene Name: solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
Aliases: MCT 3, MCT 4, MCT-3, MCT-4, MCT3, MCT4
Chromosome No: 17
Chromosome Band: 17q25.3
Genetic Category: Rare Single Gene variant
Aliases: MCT 3, MCT 4, MCT-3, MCT-4, MCT3, MCT4
Chromosome No: 17
Chromosome Band: 17q25.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations involving the SLC16A3 gene have been identified in individuals with ASD (Pinto et al., 2010).
Molecular Function
Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
