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SLC3A1  -  solute carrier family 3 (cystine, dibasic...

Canis lupus familiaris

 
 
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Disease relevance of SLC3A1

  • Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs [1].
 

High impact information on SLC3A1

  • The genetic basis of 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 precipitation of cystine due to its low solubility in urine [2].

References

  1. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Henthorn, P.S., Liu, J., Gidalevich, T., Fang, J., Casal, M.L., Patterson, D.F., Giger, U. Hum. Genet. (2000) [Pubmed]
  2. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Harnevik, L., Hoppe, A., Söderkvist, P. Mamm. Genome (2006) [Pubmed]
 
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