Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent. Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity.
Gene References into Functions
SIT1, B(0)AT1 and ACE2 were co-localized in the brush-border membrane of small intestine enterocytes. PMID: 25534429
PKB/Akt up-regulates SLC6A19 activity, which may foster amino acid uptake into PKB/Akt-expressing epithelial and tumor cells. PMID: 23234856
JAK2 up-regulates SLC6A19 activity which may foster amino acid uptake into JAK2 expressing cells. PMID: 21964291
Average loss of solute carrier expression was similar in acute tubular necrosis (77%) and T cell-mediated rejection (75%) with high correlation of individual transcripts. PMID: 20883558
A novel SLC6A19 gene mutation is associated with late-onset seizures in a Korean patient with Hartnup disorder. PMID: 20399395
We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. PMID: 15286788
One mutation, the D173N allele, is present in 42% of Hartnup chromosomes from apparently unrelated families from both Australia and North America. PMID: 17555458
Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 allele. PMID: 18484095
These findings suggest that the rare SLC6A19-MS7 allele may be a risk factor for hypertension. PMID: 18671945
Suggest that amino acid transporters B(0)AT1 and b(0,+)AT are involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells. PMID: 19322909
novel homozygous mutation of G284R in the transmembrane domain of the SLC6A19 transporter found in the proband, with typical dermatologic and neurologic manifestations and increased levels of urinary neutral amino acids PMID: 19335424
Observational study of gene-disease association. (HuGE Navigator) PMID: 18671945
Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus,