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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 ...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN744R001 
 missense_variant 
 c.991G>A 
 p.Ala331Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN744R002 
 missense_variant 
 c.1289A>G 
 p.Tyr430Cys 
 Familial 
 Maternal 
 Simplex 
 GEN744R003 
 missense_variant 
 c.1766G>C 
 p.Ser589Thr 
 Unknown 
  
 Multiplex 
 GEN744R004 
 missense_variant 
 c.1784G>C 
 p.Ser595Thr 
 Unknown 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Duplication
 2
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 2
 
X
Duplication
 1
 
X
Deletion-Duplication
 14
 

No Animal Model Data Available

 

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