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Gene Review:

Slc7a9 - solute carrier family 7 (cationic amino...

Mus musculus

Synonyms: Bat1, CSNU3, Glycoprotein-associated amino acid transporter b0,+AT1, Solute carrier family 7 member 9, b(0,+)-type amino acid transporter 1, ...

Feliubadaló, L. et al.

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Disease relevance of Slc7a9

To facilitate in vivo investigation of b0,+AT in cystinuria, Slc7a9 knockout mice have been generated [1].

High impact information on Slc7a9

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis [1].
Stones mice present a dramatic hyperexcretion of cystine and dibasic amino acids, while Slc7a9+/- mice show moderate but significant hyperexcretion of these amino acids (phenotype non-I) [1].

References

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Feliubadaló, L., Arbonés, M.L., Mañas, S., Chillarón, J., Visa, J., Rodés, M., Rousaud, F., Zorzano, A., Palacín, M., Nunes, V. Hum. Mol. Genet. (2003) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

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