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.

Pack Size

100ul, 1ml, 20ul

Applications

ELISA, WB

Host Species

Rabbit

Ig Isotype

IgG

Antibody Type

Polyclonal Antibody

Organism Species

Human

Product Synonyms

SLC29A3

Observed Mol Wt

52kDa

Alternative Names

ENT3; HJCD; PHID; HCLAP; SLC29A3

Immunogen (Antigen)

Recombinant protein

Format

Liquid

Buffer Formulation

50% glycerol, PBS with 0.02% sodium azide, pH7.3

Reactivity

Human

Uniprot ID

55315

Gene ID

Q9BZD2

Purification

Antigen-specific affinity chromatography followed by Protein A affinity chromatography

Usage

For Research Use Only. Not for diagnostics or human use.

Shelf Life

12 months at time of shipping

Shipping

Shipped in Dry Ice at -20 Degree Celsius

Storage

Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody.

KD/KO Validated

KD Validated

Disclaimer

The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use.

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