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 |
Related Diseases:
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
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11. |
NCBI article
NCBI 6505
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12. |
OMIM.ORG article
Omim 133550
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13. |
Wikipedia article
Wikipedia EN (SLC1A1)
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Update: Aug. 14, 2020