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Immunogen sequence: YARYYMRPVL AAHVFSGEEE LPQDSLSAPS VASRFIDSHT PPLRPILKKT
Highest antigen sequence identity to the following orthologs: Mouse - 64%, Rat - 62%.
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. SLC29A3 is a transmembrane glycoprotein that localizes to the lysosomal membrane and is a broad selectivity, low affinity nucleoside transporter. Mutations in the SLC29A3 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Equilibrative nucleoside transporter 3; hENT3; solute carrier family 29 (equilibrative nucleoside transporter), member 3; solute carrier family 29 (nucleoside transporters), member 3; Solute carrier family 29 member 3
Gene Aliases: ENT3; HCLAP; HJCD; PHID; SLC29A3; UNQ717/PRO1380
UniProt ID: (Human) Q9BZD2
Entrez Gene ID: (Human) 55315
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