This gene is one of two genes involved in cystinuria.
The frequency is 1:7.000. This way cystinuria is one of the most frequent inherited diseases.
The gene with the current short name SLC3A1 also known as rBAT. It is located on chromosome 2 (2 p16.3). Its size is about 45 kb and it consists of 10 Exons.
The symptomes of cystinuria are defined by the formation of cystein kidney stones. These stones show a glistening yellow color. When recognized early a prophylaxis is possible. Mutations of this great subunit of the amino acid transporter appear clinically as type I cystinuria according to ROSENBERG.
Together with the small subunit the protein product of this gene forms a heterodimer which is involved in cystine and dibasic and neutral amino acid transport in proximal tubule and intestine. But only cystinuria gains clinical importance as a result of kidney stone formation.
The genetic test is provided for effective family couselling and confirmation of a clinical suspicion to provide an early prophylaxis.
The finding of a relavant mutation confirms a clinical diagnosis.
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. |
Orphanet article Orphanet ID 123426 |
5. |
NCBI article NCBI 6519 |
6. |
OMIM.ORG article Omim 104614 |
7. |
Wikipedia article Wikipedia EN (SLC3A1) |