ArticleInvestigative ophthalmology & visual science2011
Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Embigin is involved in the regulation of early mouse kidney development.Scientific reports · 2026Article
- Effects of Sex and Cross-Sex Hormone Treatment on Renal MCT/SMCT Expression Following Prepubertal Gonadectomy.Pharmaceutics · 2025Article
- Identification of co-segregatingFrontiers in medicine · 2025Article
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- Succinate based polymers drive immunometabolism in dendritic cells to generate cancer immunotherapy.Journal of controlled release : official journal of the Controlled Release Society · 2023Article
- A pan-cancer analysis revealed the role of the SLC16 family in cancer.Channels (Austin, Tex.) · 2021Article
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.Advances in experimental medicine and biology · 2021Review
- Article
- Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.Pharmacological reviews · 2020Review
- Biology of Inherited Cataracts and Opportunities for Treatment.Annual review of vision science · 2019Review
- Characterization and Proteomic-Transcriptomic Investigation of Monocarboxylate Transporter 6 Knockout Mice: Evidence of a Potential Role in Glucose and Lipid Metabolism.Molecular pharmacology · 2019Article
- Clinical and Functional Relevance of the Monocarboxylate Transporter Family in Disease Pathophysiology and Drug Therapy.Clinical and translational science · 2018Review
- Loss of αB-crystallin function in zebrafish reveals critical roles in the development of the lens and stress resistance of the heart.The Journal of biological chemistry · 2018Article
- Monocarboxylate Transporters: Therapeutic Targets and Prognostic Factors in Disease.Clinical pharmacology and therapeutics · 2016Review
- Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.Journal of the American Society of Nephrology : JASN · 2016Article
- Basigin-mediated redistribution of CD98 promotes cell spreading and tumorigenicity in hepatocellular carcinoma.Journal of experimental & clinical cancer research : CR · 2015Article
- Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.Molecular and cellular biochemistry · 2014Article
- X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Journal of inherited metabolic disease · 2014Review
- Cultured primary human fetal retinal pigment epithelium (hfRPE) as a model for evaluating RPE metabolism.Experimental eye research · 2014Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeSLC16A12 encodes an orphan member of the monocarboxylate transporter family, MCT12. A nonsense mutation in SLC16A12 (c.643C>T; p.Q215X) causes juvenile cataract with a dominant inheritance pattern. In the present study, in vitro and in vivo experimental models were used to gain insight into how the SLC16A12 (c.643C>T) mutation leads to cataract formation.
methodsMCT12 peptide antibodies were generated and used to examine the expression of MCT12 in the lens using immuno-confocal microscopy. To determine whether loss of Slc16a12 resulted in cataract formation, a Slc16a12 hypomorphic rat generated by transposon insertional mutagenesis was characterized using RT-PCR, slit lamp microscopy and histologic methods. Exogenous expression of MCT12 and MCT12:214Δ, a mimic of the mutant allele, were used to assess protein expression and trafficking.
resultsMCT12 protein was detected in the lens epithelium and secondary fiber cells at postnatal day 1. In the Slc16a12(TKO) rat, complete loss of MCT12 did not result in any detectable ocular phenotype. Exogenous expression of MCT12-GFP and MCT12:214Δ-GFP revealed that the full-length protein was trafficked to the plasma membrane (PM), whereas the truncated protein was retained in the endoplasmic reticulum (ER). When both MCT12 and MCT12:214Δ were coexpressed, to mimic the heterozygous patient genotype, the truncated protein was retained in the ER whereas full-length MCT12 was trafficked to the PM. Furthermore, MCT12 was identified as another MCT isoform that requires CD147 for trafficking to the cell surface.
conclusionsThese data support a model whereby the SLC16A12 (c.643C>T) mutation causes juvenile cataract by a defect in protein trafficking rather than by haploinsufficiency.
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