SLC29A4
Homo sapiens
Gene Name: solute carrier family 29 member 4
Aliases: PSEC0113, ENT4, PMAT
Chromosome No: 7
Chromosome Band: 7p22.1
Genetic Category: Rare single gene variant
Aliases: PSEC0113, ENT4, PMAT
Chromosome No: 7
Chromosome Band: 7p22.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 10
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two novel missense variants in the SLC29A4 gene that reduced transport uptake activity in cellular assays (c.412G>A/p.Ala138Thr and c.978T>G/p.Asp326Glu) were identified in a total of six individuals out of a cohort of 248 Caucasian ASD cases (Adamsen et al., 2014).
Molecular Function
This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.
ASD