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SLC29A3 encodes a nucleoside transporter. De plus, nous expédions Solute Carrier Family 29 Member 3 Anticorps (34) et beaucoup plus de produits pour cette protéine.
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In a patient with H syndrome, a compound heterozygous alteration in the SLC29A3 gene was found. Her parents each had one of the mutations. The c.243delA frameshift mutation leading to a premature termination, resulting in a truncated protein, and a splice site mutation c.300+1G>C predicted to cause a splicing error. Patients with similar mutations are reviewed.
The results suggest a putative pH-sensing role for Asp (Montrer ASIP Protéines)-219 and Glu (Montrer DCTN1 Protéines)-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 (Montrer INS Protéines)-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 (Montrer CA5A Protéines).
Homozygous mutation in SLC29A3 in 2 children of consanguineous parents exhibit H syndrome: insulin (Montrer INS Protéines)-dependent diabetes, hyperpigmentation, hepatosplenomegaly, lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss. [CASE REPORT]
we describe two unrelated children with DSS (Montrer NR0B1 Protéines) 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.
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