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SLC29A3

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.
Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Cytotrophoblasts, Extravillous trophoblasts, Hofbauer cells, Syncytiotrophoblasts)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (BEWO, Hep G2, RT4)

More Types Infomation

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