SLC5A6

Chr 2p23.3

solute carrier family 5 member 6

Aliases:: SMVT
MANE:: ENST00000310574.8

OMIM: 604024 ↗NCBI: 8884 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC5A6 · Q9Y289

v62025-08-01

Predicted Aligned Error matrix for SLC5A6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.4/ 100

Confident

635 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)28%
Low(50–70)4%
Very low(< 50)17%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegeneration, infantile-onset, biotin-responsive
0.76
peripheral motor neuropathy, childhood-onset, biotin-responsive
0.63
hereditary disease
0.19
neurodevelopmental disorder
0.18
maple syrup urine disease
0.07
sarcosinemia
0.07
Crigler-Najjar syndrome type 2
0.07
maple syrup urine disease, mild variant
0.06
hyperthyroxinemia
0.06
schizophrenia
0.06

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

Protein function (UniProt)

Sodium-dependent multivitamin transporter

Sodium-dependent multivitamin transporter that mediates the electrogenic transport of pantothenate, biotin, lipoate and iodide (PubMed:10329687, PubMed:15561972, PubMed:19211916, PubMed:20980265, PubMed:21570947, PubMed:22015582, PubMed:25809983, PubMed:25971966, PubMed:27904971, PubMed:28052864, PubMed:31754459). Functions as a Na(+)-coupled substrate symporter where the stoichiometry of Na(+):substrate is 2:1, creating an electrochemical Na(+) gradient used as driving force for substrate uptake (PubMed:10329687, PubMed:20980265). Required for biotin and pantothenate uptake in the intestine across the brush border membrane (PubMed:19211916). Plays a role in the maintenance of intestinal mucosa integrity, by providing the gut mucosa with biotin (By similarity). Contributes to the luminal uptake of biotin and pantothenate into the brain across the blood-brain barrier (PubMed:25809983)