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SLC29A3 / ENT3
solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC29A3 / ENT3 is 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.
| Gene Name: | solute carrier family 29 (equilibrative nucleoside transporter), member 3 |
| Family/Subfamily: | Transporter , Equilibrative nucleoside transporter |
| Synonyms: | SLC29A3, ENT3, HCLAP, HJCD, HENT3, PHID |
| Target Sequences: | NM_018344 NP_060814.4 Q9BZD2 |
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