Target intelligence / Profile preview

Sodium-dependent neutral amino acid transporter SLC6A17 (SLC6A17)

Target
SLC6A17
Molecular classification
Transporter, Synaptic vesicle amino acid transporter, Sodium-dependent neurotransmitter transporter
01

Overview

SLC6A17 is a neuronal, sodium-dependent, neutral amino acid transporter in the SLC6 family, mainly localized to synaptic vesicles in glutamatergic and some GABAergic neurons[1][3][4][5]. It selectively transports neutral amino acids such as glutamine, proline, leucine, alanine, and possibly glycine. Recent studies have defined glutamine as its endogenous substrate critical for synaptic vesicle function and possibly neurotransmission[2]. SLC6A17 activity is sodium-coupled and chloride-independent. Mutations in SLC6A17 cause autosomal recessive intellectual disability in humans, with mouse models showing defective learning and memory due to altered synaptic glutamine metabolism[2][5]. No clinically approved small molecule modulators exist, and its pharmacological targeting is largely unexplored.

Other names
NTT4neurotransmitter transporter 4orphan sodium- and chloride-dependent neurotransmitter transporter NTT4XT1Rxt1B^0^AT3MRT48
02

Mechanism of action

Not applicable due to lack of known drugs; physiologically, the transporter catalyzes sodium-dependent uptake of neutral amino acids into vesicles, notably glutamine

03

Biological functions

Uptake of neutral amino acids into synaptic vesiclesCoupling amino acid transport with synaptic activity/exocytosisRegulation of amino acid availability for neurotransmitter synthesisPotential role in glutamine handling in neurons
04

Disease associations

Neurodevelopmental/Intellectual disability (autosomal recessive, OMIM #610299)Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
05

Safety considerations

No known drug-related safety concerns; potential therapeutic challenges include lack of substrate-selective compounds and essential neuronal function, risking neurodevelopmental phenotypes if manipulated
06

Biomarkers

Disease-causing mutations (e.g., G162R, P633R) in SLC6A17 serve as genetic biomarkers for intellectual disability, but no drug or diagnostic biomarkers are reported

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