SLC13A4
Homo sapiens
Gene Name: solute carrier family 13 member 4
Aliases: NAS2, SUT-1, SUT1
Chromosome No: 7
Chromosome Band: 7q33
Genetic Category: Functional-Rare single gene variant
Aliases: NAS2, SUT-1, SUT1
Chromosome No: 7
Chromosome Band: 7q33
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Transgenic mice with a conditional Slc13a4 alelle were found to exhibit significant behavioral phenotypes, including deficits in social interaction and long-term memory, as well as increased neurogenesis in the subventricular stem cell niche; administration of N-acetylcysteine within a postnatal window prevented the onset of phenotypes in adult mutant mice (Zhang et al., 2019).
Molecular Function
This gene encodes a sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Postnatal N-acetylcysteine administration rescues impaired social behaviors and neurogenesis in Slc13a4 haploinsufficient mice.
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
