SLC38A8

Chr 16q23.3

solute carrier family 38 member 8

Aliases:: SNAT8
MANE:: ENST00000299709.8

OMIM: 615585 ↗NCBI: 146167 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC38A8 · A6NNN8

v62025-08-01

Predicted Aligned Error matrix for SLC38A8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.7/ 100

Confident

435 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)30%
Low(50–70)8%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
0.81
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
0.78
hereditary disease
0.47
foveal hypoplasia
0.42
Hypoplasia of the fovea
0.42
Leber congenital amaurosis
0.28
sialadenitis
0.28
ovarian neoplasm
0.24
preeclampsia
0.24
schizophrenia
0.13

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

Protein function (UniProt)

Solute carrier family 38 member 8

Electrogenic sodium-dependent amino acid transporter with a preference for L-glutamine, L-alanine, L-histidine, L-aspartate and L-arginine. May facilitate glutamine uptake in both excitatory and inhibitory neurons. The transport mechanism and stoichiometry remain to be elucidated