Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Aminoaciduria
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
SLC16A1
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Hartnup disorder
SLC6A19
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8

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 [^]
4.

OMIM.ORG article

Omim 610300 [^]
5.

Orphanet article

Orphanet ID 173509 [^]
6.

Wikipedia article

Wikipedia EN (SLC6A18) [^]
Update: April 29, 2019