Cystinuria gene 1

This gene is one of two genes involved in cystinuria.

Epidemiology

The frequency is 1:7.000. This way cystinuria is one of the most frequent inherited diseases.

Gene Structure

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.

Phenotype

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.

Pathology

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.

Test Strategy

The genetic test is provided for effective family couselling and confirmation of a clinical suspicion to provide an early prophylaxis.

Interpretation

The finding of a relevant mutation confirms a clinical diagnosis.

Genetests:

Related Diseases:

Cystinuria
	SLC3A1
	SLC7A9

References:

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)