Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
With this gene mutated, lysinuric protein intolerance occurs. The gene codes for an amino acid transporter.
The gene SLC7A7, formerly known as y(+)LAT1, is located on chromosome 14 (14q11.2), spans about 46kb, and consists of 10 exons, 9 of which are translated.
| 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 | 20 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Palacín M et al. (2004) Lysinuric protein intolerance: mechanisms of pathophysiology. 
|
| 2. |
Sperandeo MP et al. (2005) Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
|
| 3. |
Esposito V et al. (2006) Growth hormone deficiency in a patient with lysinuric protein intolerance.
|
| 4. |
Tanner L et al. (2006) Hazards associated with pregnancies and deliveries in lysinuric protein intolerance.
|
| 5. |
NCBI article NCBI 9056
|
| 6. |
OMIM.ORG article Omim 603593
|
| 7. |
Orphanet article Orphanet ID 119709
|
| 8. |
Wikipedia article Wikipedia EN (SLC7A7)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
