1-832-868-1888
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Catalog Number: |
27405 |
other_names: | SLC29A3; ENT3; HCLAP; HJCD; PHID; solute carrier family 29 member 3 |
Amount: |
100μg |
calculated_mw: | 50kDa |
host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#:Q9BZD2 |
Form of Antibody: |
Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4. |
Storage/Stability: |
|
Immunogen: |
Recombinant fusion protein of human SLC29A3 (NP_060814.4). |
Purification: |
Affinity purification |
Specificity/Sensitivity: |
|
Applications: |
WB |
Background: |
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. |
References: |
|
appl_detail: |
WB 1:500 - 1:2000 |
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