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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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