Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sodium-dependent neutral amino acid transporter

The SLC6A19 gene encodes a sodium dependent amino acid transporter of neutral amino acids. Mutations are responsible for autosomal recessive Hartnup disease and iminoglycinuria as well as 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:

Hartnup disorder
SLC6A19
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.

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2.

Kleta R et al. (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

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3.

Seow HF et al. (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.

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4.

Bröer A et al. (2004) Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder.

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5.

Bröer A et al. (2011) Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse.

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6.

Orphanet article

Orphanet ID 119703 [^]
7.

NCBI article

NCBI 340024 [^]
8.

OMIM.ORG article

Omim 608893 [^]
9.

Wikipedia article

Wikipedia EN (SLC6A19) [^]
Update: April 29, 2019