ENT3 antibody, HCLAP antibody, HJCD antibody, PHID antibody, Ent3 antibody, 4933435C21Rik antibody, AW987637 antibody, solute carrier family 29 member 3 antibody, solute carrier family 29 (nucleoside transporters), member 3 antibody, SLC29A3 antibody, Slc29a3 antibody
背景
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.