Genetic Test
The SLC3A1 (Solute Carrier Family 3 Member 1) gene encodes a protein that functions as part of an amino acid transport system in the renal tubules of the kidney.
This protein is specifically involved in the reabsorption of certain amino acids—including cystine—from the urine back into the bloodstream.
Mutations in the SLC3A1 gene can impair this transport mechanism, leading to excessive cystine excretion in the urine, which can result in the formation of cystine crystals or stones in the urinary tract.
This genetic test targets two known SLC3A1 mutations associated with Cystinuria Type 1A.
Disease Description
Cystinuria is a hereditary disorder caused by a defect in the renal tubules, leading to impaired reabsorption of the amino acid cystine in the kidneys.
As a result of mutations in the genes responsible for cystine transport, excessive amounts of cystine are excreted in the urine.
Because cystine is poorly soluble, it tends to form crystals or stones (cystine uroliths) in the urinary tract, which can lead to urinary obstruction, discomfort, and other complications.
