This gene encodes a protein that belongs to a family of light subunits ofamino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport ofcystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in thekidney tubule.[5] The protein associates with the protein coded for bySLC3A1.[6]
Mutations in this gene cause non-type Icystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids.[5]
^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.PMID10471498.S2CID204989591.
