SLC6A19 Antibodies

Background

SLC6A19, as a key member of the neutral amino acid transporter family, is mainly located on the brush border of the proximal tubules of the mammalian kidney and the apical membrane of intestinal epithelial cells. This protein mediates the transmembrane reabsorption of neutral amino acids through a sodium-dependent mechanism, playing a core role in maintaining the amino acid homeostasis and nutritional metabolism of the body. Abnormal function of this protein directly leads to the occurrence and development of Hartnup disease. Since it was first cloned and identified by the Bröer team in 2004, researchers have gradually revealed the unique substrate recognition and conformational conversion mechanism of this transporter protein through crystal structure analysis, especially its oligomerization pattern and regulatory network that are different from those of classical neurotransmitter transporters. With the in-depth analysis of its role in amino acid sensing, mTOR signaling pathway regulation, and physiological functions of the intestinal-kidney axis, SLC6A19 has become an important potential target for the treatment of amino acid metabolism disorders and nutritional intervention.

Structure Function Application Advantage Our Products

Structure of SLC6A19

The protein encoded by the SLC6A19 gene has a molecular weight of approximately 70-75 kDa. There are sequence conservation and functional differences among different species.

Species	Human	Mouse	Rat	Pig	Monkey
Molecular Weight (kDa)	72	73	73	71	72
Primary Structural Differences	Highly conserved, containing 12 transmembrane domains	Approximately 90% homology to human	Highly homologous to rat	Significant intestinal expression characteristics	Most similar to human sequence

The SLC6A19 transporter is composed of 634 amino acids and its three-dimensional structure exhibits a typical LeuT folding pattern, containing a core domain formed by 12 transmembrane helices. This protein is arranged in reverse transmembrane orientation through two five-helical repeat units (TM1-5 and TM6-10), forming a substrate binding pocket in the center. Key amino acid residues such as Gln57, Asn86 and Thr383 constitute the sodium ion binding site, while Tyr139 and Phe252 recognize the side chains of neutral amino acids through hydrophobic interactions. Multiple glycosylation modification sites exist in the extracellular loop region, which regulate the membrane localization and stability of the protein.

Fig. 1 Structure of SLC6A19(B0AT1) protein and schematic diagram of Hartnup mutations.¹

Key structural properties of SLC6A19:

A typical 12-transmembrane helix topology
The central substrate binding cavity is composed of TM1, TM3, TM6 and TM8 helices
A conserved sodium ion binding site coupled with amino acid transport
Glycosylation modification of the extracellular loop regulates protein stability and membrane localization

Functions of SLC6A19

The main function of SLC6A19 is to mediate the transmembrane reabsorption of neutral amino acids in the small intestine and kidneys, and it also participates in the regulation of amino acid homeostasis and nutritional metabolism in the body.

Function	Description
Amino acid reabsorption	In the brush border of the proximal tubule of the kidney, neutral amino acids filtered through are reabsorbed in a coordinated manner to prevent their loss in urine.
Nutrient intake	On the apical membrane of the epithelial cells of the small intestine, neutral amino acids from the diet are absorbed, providing the body with a source of essential amino acids.
mTOR signaling regulation	By regulating intracellular amino acid levels and participating in the activation of the mTORC1 signaling pathway, it affects cell growth and metabolism.
Hartnup disease association	Genetic mutations lead to impaired absorption of neutral amino acids, causing the characteristic clinical manifestations of Hartnup disease.
Metabolic adaptive regulation	It is expressed at higher levels under conditions of nutrient deficiency or stress to maintain the efficiency of utilizing key amino acids.

The substrate saturation kinetics curve of SLC6A19 exhibits a typical Michaelis-Menten double-helix pattern, which is consistent with the passive diffusion characteristics of neutral amino acid transport. This indicates that it functions as a low-affinity, high-capacity transport system in the intestine and kidneys, mediating the physiological process of continuous amino acid absorption.

Applications of SLC6A19 and SLC6A19 Antibody in Literature

1. Alkhofash, Nesreen F., and Bassam R. Ali. "Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control." Frontiers in cell and developmental biology 13 (2025): 1589534. https://doi.org/10.3389/fcell.2025.1589534

The research found that among the 18 SLC6A19 gene variations that cause Hartnup disease, 9 of them cause the B0AT1 protein to be retained in the endoplasmic reticulum and disrupt its interaction with ACE2 as well as its membrane localization. This reveals a new mechanism of the disease and may affect the physiological function of ACE2.

2. Wobst, Heike J., et al. "SLC6A19 inhibition facilitates urinary neutral amino acid excretion and lowers plasma phenylalanine." JCI insight 9.21 (2024): e182876. https://doi.org/10.1172/jci.insight.182876

Studies have shown that inhibiting SLC6A19 can increase the excretion of phenylalanine in urine and reduce its blood concentration. The oral inhibitor JNT-517 has confirmed this mechanism in PKU mouse models and phase I clinical trials. It is safe and well-tolerated, providing a new treatment strategy for amino acid metabolic diseases such as PKU.

3. Pan, Yang, et al. "The SLC6A19 gene mutation in a young man with hyperglycinuria and nephrolithiasis: a case report and literature review." BMC urology 22.1 (2022): 190. https://doi.org/10.1186/s12894-022-01147-9

A Chinese young man suffered from hyperglycinuria along with kidney stones and parathyroid adenoma. Genetic testing revealed a variation in the SLC6A19 gene. Postoperative analysis of the stones showed that they were composed of calcium oxalate. This suggests that this genetic variation may cause hyperglycinuria, and abnormal amino acid excretion should be taken into account in the treatment of kidney stones.

4. Bhutia, Yangzom D., et al. "Unconventional functions of amino acid transporters: role in macropinocytosis (SLC38A5/SLC38A3) and diet-induced obesity/metabolic syndrome (SLC6A19/SLC6A14/SLC6A6)." Biomolecules 12.2 (2022): 235. https://doi.org/10.3390/biom12020235

The article indicates that amino acid transport proteins not only have the classic transmembrane transport function, but also participate in non-classical processes such as signal transduction and viral invasion. The latest research has discovered that specific transport proteins like SLC6A19 play a regulatory role in macrophagy and diet-induced obesity, expanding their biological significance in both health and disease.

5. Cuny, Hartmut, et al. "Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice." Disease models & mechanisms 16.5 (2023): dmm049647. https://doi.org/10.1242/dmm.049647

The study found that the heterozygous mutation of the SLC6A19 gene would restrict the absorption of tryptophan during pregnancy, thereby affecting the synthesis of NAD. Under the condition of vitamin B3 deficiency, this led to a decrease in NAD levels in mouse embryos, developmental abnormalities and an increased risk of miscarriage. This suggests that the mutation of this gene may affect the pregnancy outcomes in humans.

Creative Biolabs: SLC6A19 Antibodies for Research

Creative Biolabs specializes in the production of high-quality SLC6A19 antibodies for research and industrial applications. Our portfolio includes monoclonal and polyclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

Custom SLC6A19 Antibody Development: Tailor-made solutions to meet specific research requirements.
Bulk Production: Large-scale antibody manufacturing for industry partners.
Technical Support: Expert consultation for protocol optimization and troubleshooting.
Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our SLC6A19 antibodies, custom preparations, or technical support, contact us at email.

Reference

Alkhofash, Nesreen F., and Bassam R. Ali. "Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control." Frontiers in cell and developmental biology 13 (2025): 1589534. Distributed under Open Access license CC BY 4.0, without modification. https://doi.org/10.3389/fcell.2025.1589534