SLC38A8: Solute Carrier Family 38 Member 8
SLC38A8 gene encodes a sodium-coupled neutral amino acid transporter involved in retinal development and function; mutations cause foveal hypoplasia and optic nerve misrouting.
Gene Information Card
| Symbol | SLC38A8 |
|---|---|
| Full Name | Solute Carrier Family 38 Member 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q23.3 |
| NCBI Gene ID | 146167 ncbi.nlm.nih.gov/gene/146167 |
| Ensembl ID | ENSG00000166598 |
| UniProt ID | Q96I44 |
| OMIM ID | 615585 |
| HGNC ID | 32434 |
| Aliases | SNAT8, FLJ20481 |
Description
SLC38A8 (Solute Carrier Family 38 Member 8) encodes a sodium-coupled neutral amino acid transporter (SNAT8) that mediates the uptake of small neutral amino acids such as glutamine, alanine, and serine. The protein is predominantly expressed in the retina and brain. Mutations in SLC38A8 cause foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA syndrome), an autosomal recessive disorder characterized by nystagmus, reduced visual acuity, and structural eye abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA) | Loss-of-function mutations impair amino acid transport in retinal and optic nerve development, leading to foveal malformation and misrouting of optic nerve fibers. | OMIM #609218; multiple homozygous and compound heterozygous mutations reported in affected families. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Brain (cerebellum) | 8.3 | Low |
| Brain (cortex) | 6.1 | Low |
| Testis | 4.2 | Low |
| Kidney | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.0 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 7.5 | Low expression |
| HEK293 (embryonic kidney) | 3.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | Rare | Loss of transport activity; associated with FHONDA |
| c.464T>C (p.Leu155Pro) | Missense | Rare | Impaired protein folding and trafficking |
| c.742C>T (p.Arg248*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1063_1064del (p.Gln355Valfs*12) | Frameshift | Rare | Loss of function due to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most reported SLC38A8 mutations (missense, nonsense, frameshift) result in loss of amino acid transport activity, leading to FHONDA syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been described for SLC38A8.
Dominant Negative (DN)
No dominant-negative effects have been reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • amino acid:sodium symporter activity (GO:0005283) | • neutral amino acid transmembrane transporter activity (GO:0015175) |
| • neutral amino acid transport (GO:0015804) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• Solute carrier (SLC) mediated transmembrane transport (Reactome: R-HSA-425407)
• Transport of small molecules (Reactome: R-HSA-382551)
Protein Summary
SLC38A8 (SNAT8) is a 506-amino acid transmembrane protein with 11 predicted helices, belonging to the SLC38 family of sodium-coupled neutral amino acid transporters. It localizes to the plasma membrane and mediates the uptake of glutamine, alanine, serine, and other small neutral amino acids. The protein is highly expressed in the retina and brain, where it supports neurotransmitter synthesis and cellular metabolism. Loss of function due to mutations leads to FHONDA syndrome, highlighting its critical role in retinal and optic nerve development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC38A8 Knockout HEK293 Cell Line | EDJ-KQ10463 | Human | 146167 | Details Get a Quote |
| SLC38A8 Knockout HeLa Cell Line | EDJ-KQ58533 | Human | 146167 | Details Get a Quote |
| SLC38A8 Knockout A-549 Cell Line | EDJ-KQ67024 | Human | 146167 | Details Get a Quote |
| SLC38A8 Knockout HCT 116 Cell Line | EDJ-KQ75424 | Human | 146167 | Details Get a Quote |
