Aminoacid transporter SLC6A18
The SLC6A18 gene encodes a sodium dependent amino acid transporter 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. |
Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
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2. |
Höglund PJ et al. (2005) The repertoire of solute carriers of family 6: identification of new human and rodent genes.
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3. |
NCBI article
NCBI 348932
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4. |
OMIM.ORG article
Omim 610300
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5. |
Orphanet article
Orphanet ID 173509
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6. |
Wikipedia article
Wikipedia EN (SLC6A18)
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Update: Aug. 14, 2020