Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SLC36A2 gene encodes a proton-coupled amino acid transporter of neutral amino acids. Mutations are responsible for autosomal recessive iminoglycinuria and dominant hyperglycinuria.
| 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 |
| 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
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| 6. |
OMIM.ORG article Omim 608331
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| 7. |
Orphanet article Orphanet ID 173500
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| 8. |
Wikipedia article Wikipedia EN (SLC36A2)
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