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SLC29A3 encodes a nucleoside transporter. Additionally we are shipping Solute Carrier Family 29 Member 3 Antibodies (29) and Solute Carrier Family 29 Member 3 Proteins (3) and many more products for this protein.
The results suggest a putative pH-sensing role for Asp (show ASIP ELISA Kits)-219 and Glu (show DCTN1 ELISA Kits)-447 in hENT3 and that the size, ionization state, or electronegative polarity at these positions is crucial for obligate acidic pH-dependent activity.
A homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene.
novel mutation c.401G>A associated with pigmented hypertrichosis with insulin (show INS ELISA Kits)-dependent diabetes mellitus syndrome
SLC29A3 genetic polymorphisms may have a role in overall survival in advanced non-small-cell lung cancer treated with gemcitabine
Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation in H syndrome with agenesis of the inferior vena cava (show CA5A ELISA Kits).
Homozygous mutation in SLC29A3 in 2 children of consanguineous parents exhibit H syndrome: insulin (show INS ELISA Kits)-dependent diabetes, hyperpigmentation, hepatosplenomegaly, lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss. [CASE REPORT]
we describe two unrelated children with DSS (show NR0B1 ELISA Kits) associated with autosomal recessive inheritance of variants in SLC29A3.
Two novel mutations in the SLC29A3 gene were identified: a homozygous splice site mutation IVS1+2T>1 G, and a homozygous missense mutation c.1157G>1 A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain.
The 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.
severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants
study found mice lacking ENT3 developed spontaneous and progressive macrophage-dominated histiocytosis; in absence of ENT3, defective apoptotic cell clearance led to lysosomal nucleoside buildup, elevated intralysosomal pH and altered macrophage function
Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the Faisalabad histiocytosis kindred and in two families reported to have familial Rosai-Dorfman disease.
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.
equilibrative nucleoside transporter 3
, solute carrier family 29 (nucleoside transporters), member 3
, solute carrier family 29 member 3