Proton-coupled amino acid transporter 1
The SLC36A1 gene encodes a proton-dependent amino acid transporter for small 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. |
Heublein S et al. (2010) Proton-assisted amino-acid transporters are conserved regulators of proliferation and amino-acid-dependent mTORC1 activation.
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2. |
Sagné C et al. (2001) Identification and characterization of a lysosomal transporter for small neutral amino acids.
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3. |
Boll M et al. (2002) Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters.
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4. |
Boll M et al. (2003) A cluster of proton/amino acid transporter genes in the human and mouse genomes.
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5. |
Bermingham JR et al. (2004) Organization and expression of the SLC36 cluster of amino acid transporter genes.
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6. |
NCBI article
NCBI 206358
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7. |
OMIM.ORG article
Omim 606561
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8. |
Wikipedia article
Wikipedia EN (SLC36A1)
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Update: Aug. 14, 2020