Synthetic peptide sequence of solute carrier family 7 (cationic amino acid transporter, y+ system), member 9.
Application
Anti-SLC7A9 antibody produced in chicken is suitable for indirect ELISA and western blotting analysis at a dilution of 1:500, for tissue or cell staining at a dilution of 1:200.
Biochem/physiol Actions
Solute carrier family 7 member 9 is a protein encoded by the SLC7A9 gene in humans and is mapped on chromosome 19q. Mutation of this gene encodes for amino acid transport systems that are responsible for different types of cystinuria (is an autosomal recessive disorder caused by defective transport of cystine and the dibasic amino acids ornithine, lysine and arginine across cell membranes). The polymorphic background of the gene may affect the expression of the disorder in SLC7A9 mutation carriers.
Physical form
Solution in phosphate buffered saline containing 0.02% sodium azide.
Journal of inherited metabolic disease, 30(4), 611-611 (2007-08-19)
Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and the dibasic amino acids ornithine, lysine and arginine across cell membranes. Poor solubility of cystine in urine leads to kidney stones and associated symptoms and complications. Mutations
Cystinuria is a complex genetic disorder. In the present study, we report on the strict linkage disequilibrium of SLC7A9 mutations with the wild type SLC7A9 haplotype of 15 single nucleotide polymorphisms (SNPs) and their effect on cystinuria manifestation and classification.
The Israel Medical Association journal : IMAJ, 9(7), 513-516 (2007-08-23)
Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3AI on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always
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