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SLC16A12 encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. De plus, nous expédions et beaucoup plus de produits pour cette protéine.
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a model whereby the SLC16A12 (c.643C>T) mutation causes juvenile cataract by a defect in protein trafficking rather than by haploinsufficiency.
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 (Montrer SLC5A2 Anticorps) mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome
study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 (Montrer SLC6A8 Anticorps) 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.
The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR (Montrer UTS2R Anticorps) modulate translational efficiency with pathogenic consequences.
SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed.
This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria.
solute carrier family 16 (monocarboxylic acid transporters), member 12
, solute carrier family 16, member 12 (monocarboxylic acid transporter 12)
, monocarboxylate transporter 12-like
, MCT 12
, monocarboxylate transporter 12
, solute carrier family 16 member 12
, monocarboxylic acid transporter 12