SLC3A1

Summary

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
Species: dog

Top Publications

  1. ncbi Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
    P 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
  2. ncbi SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria
    Lotta Harnevik
    Department of Biomedicine and Surgery, Faculty of Health Sciences, Linkoping University, 581 85 Linkoping, Sweden
    Mamm Genome 17:769-76. 2006

Research Grants

  1. Molecular Analysis of a Canine CNS Developmental Defect
    Paula Henthorn; Fiscal Year: 2005
  2. ETIOLOGY AND DEVELOPMENT OF CONGENITAL HEART DISEASE
    Paula Henthorn; Fiscal Year: 2006

Scientific Experts

Detail Information

Publications2

  1. ncbi Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
    P 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...
  2. ncbi SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria
    Lotta 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 ..

Research Grants4

  1. Molecular Analysis of a Canine CNS Developmental Defect
    Paula Henthorn; Fiscal Year: 2005
    ....
  2. ETIOLOGY AND DEVELOPMENT OF CONGENITAL HEART DISEASE
    Paula 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. ..