Human solute carrier family 6 (neutral amino acid transporter) , member 19 ELISA Kit | SLC6A19 elisa kit
Human Sodium-dependent neutral amino acid transporter B, SLC6A19 ELISA Kit
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: Membrane protein, integral; Transporter; Transporter, SLC family; Membrane protein, multi-pass
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; amino acid transport; neurotransmitter transport; ion transport; transmembrane transport; response to nutrient
Disease: Iminoglycinuria; Hyperglycinuria; Hartnup Disorder
Research Articles on SLC6A19
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Product Notes
The Human SLC6A19 slc6a19 (Catalog #AAA9331063) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9331063 ELISA Kit recognizes Human SLC6A19. It is sometimes possible for the material contained within the vial of "solute carrier family 6 (neutral amino acid transporter) , member 19, ELISA Kit" 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
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