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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC16A8
solute carrier family 16 member 8
Chromosome 22 · 22q13.1
NCBI Gene: 23539Ensembl: ENSG00000100156.13HGNC: HGNC:16270UniProt: O95907
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
apical plasma membranebasolateral plasma membraneplasma membranemonocarboxylic acid transmembrane transporter activitymacular degenerationage-related macular degenerationdegeneration of macula and posterior poleCOVID-19
✦AI Summary

SLC16A8 encodes MCT3 (monocarboxylate transporter 3), a retinal pigment epithelium (RPE)-specific proton-coupled lactate transporter that facilitates the transport of lactate and protons out of the retina 1. This transporter belongs to the SLC16 family and catalyzes proton-linked transport of monocarboxylates including L-lactate across plasma membranes 1. MCT3 plays a crucial role in maintaining pH and ion homeostasis in the outer retina by enabling transepithelial lactate transport 2. SLC16A8 has significant disease relevance, particularly in age-related macular degeneration (AMD), where multiple rare coding variants are associated with increased AMD risk 34. A splice variant that results in intron 2 retention leads to complete absence of MCT3 protein and deficient transepithelial lactate transport 2. Beyond ocular disease, SLC16A8 shows clinical significance as a prognostic biomarker in clear cell renal cell carcinoma, where overexpression correlates with poor prognosis and tumor progression through PI3K/AKT signaling pathways 5. The gene's expression levels are also significantly altered in AMD pathology independently of CFH-mediated pathways 6.

Sources cited
1
SLC16A8 encodes MCT3, a monocarboxylate transporter that catalyzes proton-linked transport of lactate and other monocarboxylates
PMID: 23506875
2
MCT3 enables transepithelial lactate transport and a splice variant causes protein absence and transport deficits
PMID: 33477551
3
Multiple SLC16A8 rare variants are associated with AMD risk in genome-wide analysis
PMID: 39468037
4
A splice variant in SLC16A8 is associated with AMD in large genome-wide association study
PMID: 26691988
5
SLC16A8 overexpression in clear cell renal cell carcinoma correlates with poor prognosis and affects PI3K/AKT signaling
PMID: 40268265
6
SLC16A8 expression levels are significantly associated with AMD pathology independently of CFH pathways
PMID: 27966779
Disease Associationsⓘ20
macular degenerationOpen Targets
0.46Moderate
age-related macular degenerationOpen Targets
0.42Moderate
degeneration of macula and posterior poleOpen Targets
0.39Weak
COVID-19Open Targets
0.38Weak
retinopathyOpen Targets
0.31Weak
spinal cord diseaseOpen Targets
0.31Weak
atrophic macular degenerationOpen Targets
0.28Weak
wet macular degenerationOpen Targets
0.27Weak
musculoskeletal system diseaseOpen Targets
0.26Weak
glioblastoma multiformeOpen Targets
0.21Weak
sensorineural hearing lossOpen Targets
0.19Weak
central nervous system cancerOpen Targets
0.18Weak
Sensorineural hearing impairmentOpen Targets
0.18Weak
hearing lossOpen Targets
0.11Weak
age-related hearing impairmentOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
disorder of earOpen Targets
0.02Suggestive
myopiaOpen Targets
0.02Suggestive
adult-onset foveomacular vitelliform dystrophyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BSGProtein interaction85%EMBProtein interaction85%SLC16A7Protein interaction78%SLC17A5Protein interaction78%SLC16A3Shared pathway67%SLC16A5Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
62%
Liver
59%
Heart
58%
Lung
47%
Brain
26%
Gene Interaction Network
Click a node to explore
SLC16A8BSGEMBSLC16A7SLC17A5SLC16A3SLC16A5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95907
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.61 [1.10–1.94]
RankingsWhere SLC16A8 stands among ~20K protein-coding genes
  • #14,535of 20,598
    Most Researched19
  • #17,604of 17,882
    Most Constrained (LOEUF)1.94
Genes detectedSLC16A8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
PMID: 26691988
Nat Genet · 2016
1.00
2
The SLC16 gene family - structure, role and regulation in health and disease.
PMID: 23506875
Mol Aspects Med · 2013
0.90
3
Identification and validation of SLC16A8 as a prognostic biomarker in clear cell renal cell carcinoma: a six-gene solute carrier signature.
PMID: 40268265
Exp Cell Res · 2025
0.80
4
A Splice Variant in
PMID: 33477551
Cells · 2021
0.70
5
Towards the application of precision medicine in Age-Related Macular Degeneration.
PMID: 29197628
Prog Retin Eye Res · 2018
0.60