Protein Name solute carrier family 29 member 3
Organism Homo sapiens
Gene ID 55315
Gene Symbol

SLC29A3

UniProt Q9BZD2 (S29A3_HUMAN)
Relationships Total Number of functionally related compound(s) : 74
Total Number of Articles : 46
Description

solute carrier family 29 member 3

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.[provided by RefSeq, Mar 2010]

synonyms
  • equilibrative nucleoside transporter 3
  • solute carrier family 29 (equilibrative nucleoside transporter), member 3
  • solute carrier family 29 (nucleoside transporters), member 3
Click to show/hide the synonyms
Properties