SLC16A12 Antibody

1. We screened the coding exons of the gene SLC16A12 in 877 patients. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems. Our findings provide insight into molecular requirements of creatine transporter. PMID: 29088427
2. our data indicate that MCT12 functions as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 affects systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous MCT12 and SGLT2 mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome PMID: 26376857
3. study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. PMID: 23578822
4. The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR modulate translational efficiency with pathogenic consequences. PMID: 20181839
5. Observational study of gene-disease association. (HuGE Navigator) PMID: 20181839
6. SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed. PMID: 18304496
7. Observational study of gene-disease association. (HuGE Navigator) PMID: 16385451

Show More

Hide All

HGNC: 23094

OMIM: 611910

KEGG: hsa:387700

STRING: 9606.ENSP00000360855

UniGene: Hs.530338