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溶质载体转运蛋白家族29成员3抗体
半岛bd体育手机客户端 介绍
靶标：
SLC29A3 半岛bd体育手机客户端 别名： ENT3； HCLAP； HJCD； PHID； SLC29A3； solute carrier family 29 member 3； solute carrier family 29 member 3； equilibrative nucleoside transporter 3； solute carrier family 29 (equilibrative nucleoside transporter), member 3； solute carrier family 29 (nucleoside transporters), member 3； 溶质载体转运蛋白家族29成员3； 背景信息：
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.
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