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huSLC6A19
製品ID :
C002000
系統:
C57BL/6NCya
状況:
説明:
The SLC6A19 gene encodes B0AT1, a sodium-dependent neutral amino acid transporter. Operating as the primary apical transporter, B0AT1 mediates the Na+-dependent (chloride-independent) uptake of most neutral amino acids across epithelial membranes to facilitate intestinal absorption and renal reabsorption [1]. This process requires essential accessory proteins: ACE2 in the intestine and collectrin (CLTRN) in the kidney for proper trafficking and functional activity. Primarily expressed in the small intestine and renal proximal tubules—with secondary expression in the pancreas, liver, and brain ependymal cells—B0AT1 is vital for systemic amino acid homeostasis. Mutations in this gene result in Hartnup disorder, an autosomal-recessive condition defined by neutral aminoaciduria and tryptophan/niacin deficiencies, which may manifest as pellagra-like rashes, ataxia, or neuropsychiatric issues such as ADHD [2]. Interestingly, SLC6A19 is now a therapeutic target. Pharmacological inhibition is being studied to manage phenylketonuria (PKU) by promoting urinary amino acid excretion [3]. Furthermore, inhibiting or deleting SLC6A19 mimics the effects of dietary protein restriction, offering metabolic benefits such as improved glucose tolerance, obesity prevention, and elevated levels of FGF21 and GLP-1 [4].
The huSLC6A19 mouse model was generated by replacing the sequences from the ATG start codon to 3'UTR of the endogenous mouse Slc6a19 gene with the sequences from the ATG start codon to 3'UTR of the human SLC6A19 gene. This model is applicable to research on metabolic disorders such as Hartnup disease, phenylketonuria (PKU), and obesity, as well as to the screening, development, and safety evaluation of SLC6A19-targeted drugs.
The SLC6A19 gene encodes B0AT1, a sodium-dependent neutral amino acid transporter. Operating as the primary apical transporter, B0AT1 mediates the Na+-dependent (chloride-independent) uptake of most neutral amino acids across epithelial membranes to facilitate intestinal absorption and renal reabsorption [1]. This process requires essential accessory proteins: ACE2 in the intestine and collectrin (CLTRN) in the kidney for proper trafficking and functional activity. Primarily expressed in the small intestine and renal proximal tubules—with secondary expression in the pancreas, liver, and brain ependymal cells—B0AT1 is vital for systemic amino acid homeostasis. Mutations in this gene result in Hartnup disorder, an autosomal-recessive condition defined by neutral aminoaciduria and tryptophan/niacin deficiencies, which may manifest as pellagra-like rashes, ataxia, or neuropsychiatric issues such as ADHD [2]. Interestingly, SLC6A19 is now a therapeutic target. Pharmacological inhibition is being studied to manage phenylketonuria (PKU) by promoting urinary amino acid excretion [3]. Furthermore, inhibiting or deleting SLC6A19 mimics the effects of dietary protein restriction, offering metabolic benefits such as improved glucose tolerance, obesity prevention, and elevated levels of FGF21 and GLP-1 [4].
The huSLC6A19 mouse model was generated by replacing the sequences from the ATG start codon to 3'UTR of the endogenous mouse Slc6a19 gene with the sequences from the ATG start codon to 3'UTR of the human SLC6A19 gene. This model is applicable to research on metabolic disorders such as Hartnup disease, phenylketonuria (PKU), and obesity, as well as to the screening, development, and safety evaluation of SLC6A19-targeted drugs.
huSLC6A19/Pah-R243Q
製品ID :
C002064
系統:
C57BL/6NCya
状況:
説明:
The huSLC6A19/Pah-R243Q mouse was generated by replacing the endogenous mouse Slc6a19 gene sequence (from the start codon to the 3'UTR) with the human SLC6A19 gene sequence (from the start codon to the 3'UTR) in the Pah-R243Q mice (catalog No.: C001738). This model is suitable for research on phenylketonuria (PKU), amino acid metabolism disorders, and the screening and preclinical evaluation of SLC6A19 inhibitors.
The huSLC6A19/Pah-R243Q mouse was generated by replacing the endogenous mouse Slc6a19 gene sequence (from the start codon to the 3'UTR) with the human SLC6A19 gene sequence (from the start codon to the 3'UTR) in the Pah-R243Q mice (catalog No.: C001738). This model is suitable for research on phenylketonuria (PKU), amino acid metabolism disorders, and the screening and preclinical evaluation of SLC6A19 inhibitors.
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