SLC7A3
Homo sapiens
Gene Name: Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
Aliases: ATRC3, CAT-3, CAT3
Chromosome No: X
Chromosome Band: Xq13.1
Genetic Category: Rare single gene variant
Aliases: ATRC3, CAT-3, CAT3
Chromosome No: X
Chromosome Band: Xq13.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 10
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A missense variant in the SLC7A3 gene was identified in two brothers with ASD and a maternal half-brother with language delay; sequencing of 148 male patients with ASD identified three additional missense variants in SLC7A3, two of which showed impaired CAT-3 function (Nava et al., 2015).
Molecular Function
This gene encodes a member of the solute carrier family 7 that functions as a sodium-independent cationic amino acid transporter and mediates the uptake of the cationic amino acids arginine, lysine and ornithine.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
ASD
Support
The cationic amino acid transporters CAT1 and CAT3 mediate NMDA receptor activation-dependent changes in elaboration of neuronal processes via the ...
