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Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20

References:

1.

Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

external link
2.

Nash SR et al. (1998) Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms.

external link
3.

Orphanet article

Orphanet ID 173505 external link
4.

NCBI article

NCBI 54716 external link
5.

OMIM.ORG article

Omim 605616 external link
6.

Wikipedia article

Wikipedia EN (SLC6A20) external link
Update: Aug. 14, 2020
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