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SLC6A8
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For Research Use Only. Not For Clinical Use.
Background
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome.
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Transporters
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Distal enterocytes, Proximal enterocytes, Bipolar cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (A-431, AN3-CA, SK-BR-3)
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