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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SLC29A3-20-RE | 20 (40 μL) | 200 μL |  |
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| SLC29A3-20-OR | 20 (40 μL) | 200 μL |  |
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| SLC29A3-20-GO | 20 (40 μL) | 200 μL |  |
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| SLC29A3-20-GR | 20 (40 μL) | 200 μL |  |
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| SLC29A3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SLC29A3
Gene Name : Solute carrier family 29 member 3
Chromosome : CHR 10: 713,192,52-713,633,89
Locus : 10q22.1
Alt. Genes : HIPK3
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