SLC16A8
Solute Carrier Family 16 Member 8 (MCT3)
Gene Information Card
| Symbol | SLC16A8 |
|---|---|
| Full Name | Solute Carrier Family 16 Member 8 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23523 ncbi.nlm.nih.gov/gene/23523 |
| Ensembl ID | ENSG00000100156 |
| UniProt ID | O95907 |
| OMIM ID | 609502 |
| HGNC ID | 10985 |
| Aliases | MCT3, MCT 3 |
Description
SLC16A8 (Solute Carrier Family 16 Member 8) encodes the monocarboxylate transporter 3 (MCT3), a proton-coupled transporter of monocarboxylates such as lactate, pyruvate, and ketone bodies. MCT3 is predominantly expressed in the retinal pigment epithelium (RPE) and choroid plexus, where it mediates lactate efflux from the RPE to the blood, playing a critical role in retinal metabolism and pH homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Impaired lactate transport from RPE to choroid may disrupt retinal energy metabolism and pH balance | OMIM #609502; ClinVar reports of pathogenic variants in SLC16A8 associated with autosomal recessive retinal dystrophy |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Choroid plexus | 8.3 | Low |
| Kidney | 2.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (RPE cell line) | 15.0 | High expression; MCT3 is the major lactate transporter in RPE |
| HEK293 | 0.8 | Low/absent |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | <0.01% | Loss of protein expression; associated with retinal dystrophy |
| c.200T>C (p.Leu67Pro) | Missense | <0.01% | Impaired transporter activity; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense and start-loss variants reduce or abolish lactate transport, leading to retinal dystrophy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Monocarboxylate transport (Reactome: R-HSA-433137)
• Retina metabolism (KEGG: hsa04740)
Protein Summary
MCT3 (UniProt O95907) is a 12-transmembrane domain protein localized to the basolateral membrane of retinal pigment epithelium cells. It functions as a proton-coupled symporter for lactate and other monocarboxylates, essential for removing lactate from the retina to prevent acidosis and support photoreceptor function. The protein is glycosylated and requires association with basigin (CD147) for proper trafficking and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC16A8 Knockout HEK293 Cell Line | EDJ-KQ7384 | Human | 23539 | Details Get a Quote |
| SLC16A8 Knockout HCT 116 Cell Line | EDJ-KQ33867 | Human | 23539 | Details Get a Quote |
| SLC16A8 Knockout HeLa Cell Line | EDJ-KQ55762 | Human | 23539 | Details Get a Quote |
| SLC16A8 Knockout A-549 Cell Line | EDJ-KQ64260 | Human | 23539 | Details Get a Quote |
