Slc7a13-KO Mouse

Slc7a13, also known as AGT1, is a membrane protein that functions as a cystine transporter in the renal proximal tubule. It forms a heterodimer with rBAT/SLC3A1 in the apical membrane of the S3 segment of proximal tubules and is involved in the reabsorption of cystine, as well as transporting aspartate and glutamate [3].

No evidence was found for point mutations in SLC7A13 contributing to the etiology of cystinuria in a cohort of 17 patients negative for SLC3A1 and SLC7A9 mutations, excluding it as the third cystinuria gene for these cases [1]. However, further research is still needed to fully elucidate its role in human cystinuria as it remains a promising candidate gene [2].

In a cisplatin-induced acute kidney injury mouse model, the Lhx1os-203/mmu-miR-21a-3p/Slc7a13 ceRNA regulatory pathway was identified, suggesting a potential role in this condition [4]. Additionally, a SNP in SLC7A13 was associated with bovine tuberculosis status in African buffalo, indicating its possible involvement in genetic susceptibility to the disease [5].

In conclusion, Slc7a13 is an important cystine transporter in the renal proximal tubule. Although it has been excluded as a major contributor to cystinuria in certain patient cohorts, its potential role in human cystinuria and other disease conditions such as acute kidney injury and bovine tuberculosis susceptibility requires further investigation. The study of Slc7a13 using various models helps to understand its functions in different biological processes and disease mechanisms.