Synonyms:ENT3, ENTREZ:55315, HCLAP, HGNC:23096, HJCD, MIM:612373, NM_001174098, NM_001363518, NM_018344, NP_001167569, NP_001350447, NP_060814, NR_033413, NR_033414, PHID, SLC29A3, XM_017016377, XM_017016378, XP_016871866, XP_016871867, solute carrier family 29 member 3
Omim:OMIM:612373
Id:ENSG00000198246
Hgnc:HGNC:23096
Description:solute carrier family 29 member 3
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]