Large neutral amino acids transporter small subunit 2
The SLC7A8 gene encodes a subunit amino acid transporter for neutral amino acids which is present in the kidney, but whose clinical impact has yet to be determined.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Wirth EK et al. (2009) Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.
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2. |
Deloukas P et al. (1998) A physical map of 30,000 human genes.
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3. |
Borsani G et al. (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
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4. |
Pineda M et al. (1999) Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.
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5. |
NCBI article
NCBI 23428
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6. |
OMIM.ORG article
Omim 604235
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7. |
Wikipedia article
Wikipedia EN (SLC7A8)
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Update: Aug. 14, 2020