SLC6A19

Chr 5p15.33

solute carrier family 6 member 19

Aliases:: B0AT1
MANE:: ENST00000304460.11

OMIM: 608893 ↗NCBI: 340024 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC6A19 · Q695T7

v62025-08-01

Predicted Aligned Error matrix for SLC6A19 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.0/ 100

Very high

634 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)21%
Low(50–70)2%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
COVID-19 research
Unknown
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hartnup disease
0.84
iminoglycinuria
0.62
Hyperglycinuria
0.56
clonal hematopoiesis
0.26
frozen shoulder
0.21
hereditary disease
0.19
pathological myopia
0.11
myopia
0.11
colorectal carcinoma
0.09
nonpapillary renal cell carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

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

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:15286788, PubMed:19185582). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:18424768, PubMed:19185582)