Mouse anti-Human SLC6A19 Monoclonal Antibody | anti-SLC6A19 antibody
SLC6A19 (Solute Carrier Family 6 Member 19, Sodium-dependent Neutral Amino Acid Transporter B(0)AT1, B0AT1, System B(0) Neutral Amino Acid Transporter AT1, HND) (AP)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]
Uniprot Description
SLC6A19: Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium- dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent. Defects in SLC6A19 are a cause of Hartnup disorder (HND). HND is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. Defects in SLC6A19 may be a cause of hyperglycinuria (HG). It is a condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria. Defects in SLC6A19 may be a cause of iminoglycinuria (IG). It is a disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily.
Protein type: Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family
Chromosomal Location of Human Ortholog: 5p15.33
Cellular Component: brush border membrane; integral to plasma membrane; plasma membrane
Molecular Function: neutral amino acid transmembrane transporter activity; neurotransmitter:sodium symporter activity
Biological Process: neutral amino acid transport; neurotransmitter transport; amino acid transport; ion transport; transmembrane transport; response to nutrient
Disease: Iminoglycinuria; Hyperglycinuria; Hartnup Disorder
Research Articles on SLC6A19
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Product Notes
The SLC6A19 slc6a19 (Catalog #AAA6133839) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. The SLC6A19 (Solute Carrier Family 6 Member 19, Sodium-dependent Neutral Amino Acid Transporter B(0)AT1, B0AT1, System B(0) Neutral Amino Acid Transporter AT1, HND) (AP) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's SLC6A19 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the SLC6A19 slc6a19 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "SLC6A19, Monoclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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