SLC6A17

Chr 1p13.3

solute carrier family 6 member 17

Aliases:: NTT4
MANE:: ENST00000331565.5

OMIM: 610299 ↗NCBI: 388662 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC6A17 · Q9H1V8

v62025-08-01

Predicted Aligned Error matrix for SLC6A17 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.0/ 100

Confident

727 residues

Confidence breakdown

Very high(≥ 90)57%
Confident(70–90)23%
Low(50–70)3%
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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
0.70
Abnormality of skin pigmentation
0.35
actinic keratosis
0.32
skin cancer
0.27
skin neoplasm
0.27
generalized dystonia
0.27
sunburn
0.26
squamous cell carcinoma
0.25
basal cell carcinoma
0.25
acquired thrombocytopenia
0.24

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

Protein function (UniProt)

Sodium-dependent neutral amino acid transporter SLC6A17

Synaptic vesicle transporter with apparent selectivity for neutral amino acids. The transport is sodium-coupled but chloride-independent, likely driven by the proton electrochemical gradient generated by vacuolar H(+)-ATPase in an overall electrogenic mechanism. May contribute to the synaptic uptake of neurotransmitter precursors in a process coupled in part to vesicle exocytosis