Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

proton-coupled amino acid transporter 2

The SLC36A2 gene encodes a proton-coupled 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.

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2.

Boll M et al. (2002) Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters.

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3.

Boll M et al. (2003) A cluster of proton/amino acid transporter genes in the human and mouse genomes.

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4.

Bermingham JR et al. (2004) Organization and expression of the SLC36 cluster of amino acid transporter genes.

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5.

NCBI article

NCBI 153201 [^]
6.

OMIM.ORG article

Omim 608331 [^]
7.

Orphanet article

Orphanet ID 173500 [^]
8.

Wikipedia article

Wikipedia EN (SLC36A2) [^]
Update: April 29, 2019