SLC6A19, Polyclonal Antibody

HND; B0AT1

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

The antibody detects endogenous levels of total SLC6A19 protein.

Antigen affinity purification.

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

1.5 mg/ml (lot specific)

Store at -20 degree C

Small volumes of anti-SLC6A19 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Total protein Ab

Immunohistochemistry (IHC)

Immunohistochemistry: 1:25-1:100

Immunohistochemical analysis of paraffin-embedded Human prostate cancer tissue using at dilution 1/25.

71,110 Da

solute carrier family 6 (neutral amino acid transporter), member 19

sodium-dependent neutral amino acid transporter B(0)AT1

Sodium-dependent neutral amino acid transporter B(0)AT1

B0AT1  [Similar Products]

S6A19_HUMAN

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]

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, integral; Transporter, SLC family; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 5p15.33

Cellular Component: integral to plasma membrane; brush border 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

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