Product Datasheet
SLC29A3 Polyclonal Antibody
Catalog Number: 27405
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q9BZD2
NCBI Gene ID:55315
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- Recombinant fusion protein of human SLC29A3 (NP_060814.4).
- appl_detail:
- WB 1:500 - 1:2000
- other_names:
- SLC29A3; ENT3; HCLAP; HJCD; PHID; solute carrier family 29 member 3
- Purification:
- Affinity purification
- 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.
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