SLC29A1 Chromosome 6

Solute carrier family 29 member 1 (Augustine blood group)
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Blood group antigens|Solute carrier family 29"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000112759
Associated Conditions (1)
Hemolytic disease of fetus OR newborn due to isoimmunization
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1131690802 Health Risk Pathogenic Hemolytic disease of fetus OR newborn due to isoimmunization, Hemolytic disease of fetus OR newborn due to isoimmunization
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