SLC7A9

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solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
Identifiers
SymbolSLC7A9
Alt. symbolsCSNU3
Entrez11136
HUGO11067
OMIM604144
RefSeqNM_014270
UniProtP82251
Other data
LocusChr. 19 q13.1

Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 also known as SLC7A9 is a protein which in humans is encoded by the SLC7A9 gene.[1]

Function

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule.[1] The protein associates with the protein coded for by SLC3A1.[2]

Clinical significance

Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids.[1]

See also

References

  1. 1.0 1.1 1.2 "SLC7A9".
  2. Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M (September 1999). "Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT". Nat. Genet. 23 (1): 52–7. doi:10.1038/12652. PMID 10471498.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.




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