Description
Product Characteristics: 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 (1,2). SLC29A3 is a transmembrane glycoprotein that localizes to the lysosomal membrane and is a broad selectivity, low affinity nucleoside transporter (3). Mutations in the SLC29A3 gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism (4). A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus (5).
Target Information: 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.[provided by RefSeq, Mar 2010]