Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by the SLC17A5 gene.[5][6][7]
A deficiency of this protein causes Salla disease.[7][8] and Infantile Sialic Acid Storage Disease (ISSD).
The gene for HP59 contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by the SLC17A5 gene on Chromosome 6[9][10][11]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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see also solute carrier disorders |
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