Target intelligence / Profile preview

Solute carrier family 38 member 8 (SLC38A8)

Target
SLC38A8
Molecular classification
Transporter, Sodium-coupled neutral amino acid transporter (system A transporter), Solute carrier (SLC) transporter
01

Overview

Solute carrier family 38 member 8 (SLC38A8), also known as SNAT8, is a sodium-coupled neutral amino acid transporter belonging to the SLC38 family[5][1][3]. It is a transmembrane protein with eleven transmembrane domains, transporting amino acids—including L-glutamine, L-alanine, L-histidine, L-aspartate, and L-arginine—into neurons, with sodium dependence[1][5][3]. SLC38A8 is classified as a system A transporter and is crucial for maintaining neuronal amino acid pools and regulating the glutamine/glutamate (GABA) cycle in the brain, suggesting a foundational role in neurotransmission and brain metabolism[1][3]. Mutations in SLC38A8 cause foveal hypoplasia 2, pathologic nystagmus, and related visual system development disorders[5]. While functionally characterized in neuronal context and associated with developmental diseases, there are currently no known drugs that specifically target SLC38A8 for therapeutic purposes[5][1][3].

Other names
SNAT8Amino acid transporter SLC38A8Putative sodium-coupled neutral amino acid transporter 8FHASDFVH2
02

Biological functions

Amino acid transport (notably L-glutamine, L-alanine, L-histidine, L-aspartate, L-arginine)Regulation of glutamine/glutamate (GABA) cycle in the brainMaintenance of neuronal amino acid homeostasis
03

Disease associations

Foveal hypoplasia (notably foveal hypoplasia 2)Pathologic nystagmusAnterior segment dysgenesisOther neurodevelopmental or vision disorders tied to SLC38A8 mutations
04

Safety considerations

Potential for CNS or retinal disruption if modulatedRisk of developmental effects (due to role in neuronal and visual system development)
05

Biomarkers

Mutation status of SLC38A8 (for neurodevelopmental/ophthalmic disorders)

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