Gene Symbol | SLC29A3 |
Entrez Gene ID | 55315 |
Full Name | solute carrier family 29 member 3 |
Synonyms | ENT3,HCLAP,HJCD,PHID |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) |