SLC29A3 is a member of the equilibrative nucleoside transporter family which plays a key role in nucleoside and nucleobase uptake for salvage pathways of nucleotide synthesis. SLC29A3 is a transmembrane glycoprotein that localizes to the lysosomal membrane and is a broad selectivity, low affinity nucleoside transporter. Mutations in the SLC29A3 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.
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