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