SLC29A3, cDNA Clone

For Research Use Only. Not for use in diagnostic procedures.

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Small volumes of SLC29A3 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

35,502 Da

solute carrier family 29 member 3

equilibrative nucleoside transporter 3

Equilibrative nucleoside transporter 3

ENT3; hENT3  [Similar Products]

S29A3_HUMAN

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]

SLC29A3: Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine. Defects in SLC29A3 are the cause of histiocytosis- lymphadenopathy plus syndrome (HLAS). A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Transporter, SLC family; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 10q22.1

Cellular Component: lysosomal membrane

Molecular Function: nucleoside transmembrane transporter activity

Disease: Histiocytosis-lymphadenopathy Plus Syndrome

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