The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA585733(SLC16A12 Antibody) at dilution 1/30, on the right is treated with synthetic peptide. (Original magnification: ×200)
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.
基因功能參考文獻:
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
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
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
The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR modulate translational efficiency with pathogenic consequences. PMID: 20181839
Observational study of gene-disease association. (HuGE Navigator) PMID: 20181839
SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed. PMID: 18304496
Observational study of gene-disease association. (HuGE Navigator) PMID: 16385451
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相關疾病:
Cataract 47 (CTRCT47)
亞細胞定位:
Cell membrane; Multi-pass membrane protein.
蛋白家族:
Major facilitator superfamily, Monocarboxylate porter (TC 2.A.1.13) family
組織特異性:
Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens.