Anti-SLC29A3, NT (SLC29A3, ENT3, Equilibrative nucleoside transporter 3, Solute carrier family 29 me

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. Applications: Suitable for use in Western Blot, Immunohistochemistry, ELISA, Recommended Dilution: ELISA: 1:1,000, Western Blot: 1:100-500, Immunohistochemistry: 1:10-50, Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.