FUNCTION: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
DISEASE: Defects in SLC7A9 are a cause of non-type I cystinuria (CSNU) [MIM:600918]. CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent); type II (high excretor); type III (moderate excretor). Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non-classic type I cystinuria cases.
应用类型
WB
免疫原
3-19
来源宿主
鸡
反应性
人
保存建议
SLC7A9 antibody can be stored at 4˚C for short term (weeks). Long term storage should be at -20˚C. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.