Entrez gene ID | | 55315 |
Official gene symbol | | SLC29A3 |
Full name | | solute carrier family 29 (nucleoside transporters), member 3 |
Aliases | | ,ENT3,FLJ11160, |
Gene 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. |
Location | | Chromosome: 10 Locus: 10q22.1 |
Gene position | | 73079010 - 73123147 Map Viewer |
Gene orientation | | plus |
Gene size | | 44138 bp |
Gene sequence |
| |
OMIM ID | | 612373 |
|