SLC16A7
Homo sapiens
Gene Name: Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)
Aliases: MCT2
Chromosome No: 12
Chromosome Band: 12q14.1
Genetic Category: Rare single gene variant
Aliases: MCT2
Chromosome No: 12
Chromosome Band: 12q14.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo 500 Kb deletion involving the SLC16A7 gene was detected in a male patient with autism, mild ID, and hyperactivity (Wisniowiecka-Kowalnik et al., 2012). This deletion was not found in the Database of Genomic Variants (DGV) or in a group of 2026 healthy individuals.
Molecular Function
Proton-linked monocarboxylate transporter that 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. MCT2 is a high affinity pyruvate transporter.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
ASD
DD/ID
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
