This gene is one of two genes involved in cystinuria.
Cystinuria is not rare. The prevalence is 1:7.000
The gene SLC7A9 formerly named b(0,+)AT is localized on chromosom 19 (19q13.1). It is about 40kb in size an consits of 13 exons, 12 of them translated.
The most important symptome is cystinuria. This leads to cysine stone formation because of the bad solubility of cystine in urinary environment. Later on in the history of the disease there might be recurrent urinary infections dominating the clinical picture. End stage renal failure is rare. According to the classical differention of cystinuria mutations in this small subunit may be classified as type 2 and 3 (ROSENBERG).
The protein product of this gene is in its functional form highly glycosilated. It forms a heterodimer with a big subunit. This heterodimer is the transporter for dibasic amino acids. It can be found on the luminal membrane of enterocyzes and proximal tubulus cells. The resultant defect in transport refers not only to cystein but other dibasic amino acids lysine and arginine are effected too. But only the transport defect of cystine gains clinical importance.
Confirmation of the diagnosis when cystinuria is suspected. Family screening if a patient in the family is known.
The importance of the genetic testing of this gne can be seen in family consuling and early prophylaxis.
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. |
None (2004) The molecular basis of kidney stones. |
2. |
None (2004) The molecular basis of cystinuria. |
3. |
Dello Strologo L et al. (2006) Cystinuria. |
4. |
NCBI article NCBI 11136 |
5. |
OMIM.ORG article Omim 604144 |
6. |
Orphanet article Orphanet ID 119713 |
7. |
Wikipedia article Wikipedia EN (SLC7A9) |