Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Glutamate/aspartate transporter 3

The SLC1A1 gene encodes an enteral and renal amino acid transporter for dicarboxylic amino acids aspartate and glutamate. Mutations cause autosomal recessive dicarboxylic aminoaciduria which is characterized by recurrent kidney stones.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Dicarboxylic aminoaciduria
SLC1A1

References:

1.

Peghini P et al. (1997) Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration.

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2.

Bailey CG et al. (2011) Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

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3.

Kanai Y et al. (1992) Primary structure and functional characterization of a high-affinity glutamate transporter.

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4.

Smith CP et al. (1994) Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders.

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5.

Lin CI et al. (2001) Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18.

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6.

Aoyama K et al. (2006) Neuronal glutathione deficiency and age-dependent neurodegeneration in the EAAC1 deficient mouse.

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7.

Berman AE et al. (2011) N-acetylcysteine prevents loss of dopaminergic neurons in the EAAC1-/- mouse.

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8.

Melhem N et al. (2011) Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.

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9.

Myles-Worsley M et al. (2013) Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family.

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10.

Orphanet article

Orphanet ID 353548 external link
11.

NCBI article

NCBI 6505 external link
12.

OMIM.ORG article

Omim 133550 external link
13.

Wikipedia article

Wikipedia EN (SLC1A1) external link
Update: Aug. 14, 2020
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