Glutamate/Aspartate transporter 3
Das SLC1A1-Gen kodiert den renalen und enteralen Aminosäuretransporter für Glutamat und Aspartat. Mutationen sind für die autosomal rezessive Erkrankung Dicarboxyl-Aminoazidurie verantwortlich, die sich vor allem in einer Neigung zu Urolithiasis manifestiert.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020