Genetic Test
The SLC3A1 (Solute Carrier Family 3 Member 1) gene encodes a protein involved in the transport of amino acids within the renal tubules of the kidney.
This protein plays a key role in the reabsorption of cystine and other dibasic amino acids from the urine back into the bloodstream.
Mutations in the SLC3A1 gene can disrupt this process, leading to excessive cystine excretion in the urine and the development of cystine crystals or stones in the urinary tract.
This genetic test targets a specific SLC3A1 mutation associated with Cystinuria Type 2A.
Disease Description
Cystinuria is an inherited disorder caused by defects in the renal tubules, leading to impaired reabsorption of the amino acid cystine in the kidneys.
Due to mutations in genes responsible for cystine transport, excessive amounts of cystine are excreted in the urine.
Because cystine is poorly soluble, it tends to crystallize and form cystine stones (uroliths) in the urinary tract, which can lead to urinary obstruction, discomfort, and recurrent infections.
