SLC29A3 Rabbit polyclonal antibody

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£152.00

SKU:: A10377
Additional Names:: ENT3|HCLAP|HJCD|PHID|SLC29A3
Application:: ELISA, WB
Molecular Weight:: 50kda
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNFFITAKEYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVA
Uniprot:: Q9BZD2
Synonyms:: ENT3;equilibrative nucleoside transporter 3;HCLAP;HJCD;PHID;solute carrier family 29 (equilibrative nucleoside transporter), member 3;solute carrier family 29 (nucleoside transporters), member 3;Solute carrier family 29 member 3
Extra Details:: 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.