Gene Symbol: SLC3A1
Description: solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1
Alias: amino acid transporter SLC3A1, neutral and basic amino acid transport protein rBAT, solute carrier family 3, member 1
- Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogsP S Henthorn
Center for Comparative Medical Genetics, Laboratory of Biochemistry, University of Pennsylvania School of Veterinary Medicine, Philadelphia 19104 6010, USA
Hum Genet 107:295-303. 2000..humans, can be distinguished clinically and biochemically, and have been associated with mutations in the SLC3A1 (rBAT) and SLC7A9 genes, respectively...
- SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuriaLotta Harnevik
Department of Biomedicine and Surgery, Faculty of Health Sciences, Linkoping University, 581 85 Linkoping, Sweden
Mamm Genome 17:769-76. 2006..the disorder is best characterized in humans and is caused by mutations in one of the amino acid transporter genes SLC3A1 or SLC7A9, which results in hyperexcretion of cystine and the dibasic amino acids in the urine and subsequent ..
- Molecular Analysis of a Canine CNS Developmental DefectPaula Henthorn; Fiscal Year: 2005....
- ETIOLOGY AND DEVELOPMENT OF CONGENITAL HEART DISEASEPaula Henthorn; Fiscal Year: 2006..The findings are expected to aid in the discovery of the corresponding molecular genetic defects in humans, leading to advances in genetic counseling, prenatal diagnosis, and treatment of these common birth defects. ..