蛋白质/抗原/多肽 >> 重组蛋白
重组溶质载体转运蛋白家族29成员3
产品介绍 基因名: SLC29A3 产品别名: 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.[provided by RefSeq, Mar 2010] 标签:His-tag |
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