Sodium- and chloride-dependent transporter
The SLC6A20 gene encodes a sodium- and chloride-dependent amino acid transporter of neutral amino acids. Mutations are responsible for autosomal recessive iminoglycinuria and dominant hyperglycinuria.
Genetests:
Related Diseases:
References:
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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. |
Nash SR et al. (1998) Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms.
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3. |
Orphanet article
Orphanet ID 173505
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4. |
NCBI article
NCBI 54716
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5. |
OMIM.ORG article
Omim 605616
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6. |
Wikipedia article
Wikipedia EN (SLC6A20)
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Update: Aug. 14, 2020