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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SLC29A3 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID55315
Official gene symbolSLC29A3
Full namesolute carrier family 29 (nucleoside transporters), member 3
Aliases,ENT3,FLJ11160,
Gene summaryThis 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.
LocationChromosome: 10   Locus: 10q22.1
Gene position73079010 - 73123147  Map Viewer
Gene orientationplus
Gene size44138 bp
Gene sequence
OMIM ID612373