SLC6A19

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]

Full Name

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

Function

Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:15286787, PubMed:15286788, PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152).
This uptake is sodium-dependent and chloride-independent (PubMed:15286787, PubMed:19185582, PubMed:15286788).
Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:19185582, PubMed:18424768).

Biological Process

Biological Process amino acid transportTAS:Reactome
Biological Process response to nutrientIEA:Ensembl
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process viral life cycle1 PublicationIC:ComplexPortal

Cellular Location

Cell membrane
Apical cell membrane
Colocalizes with ACE2 on the apical membrane of cells lining villi of the jejunum, ileum and on kidney proximal tubules.

Involvement in disease

Hartnup disorder (HND):
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.
Hyperglycinuria (HG):
A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.
Iminoglycinuria (IG):
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.